Affinage

OSTM1

Osteopetrosis-associated transmembrane protein 1 · UniProt Q86WC4

Length
334 aa
Mass
37.3 kDa
Annotated
2026-06-10
33 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

OSTM1 is a type I transmembrane glycoprotein that functions as the obligate β-subunit of the lysosomal CLC-7 Cl⁻/H⁺ exchanger, governing endolysosomal ion homeostasis in osteoclasts and neurons (PMID:16525474, PMID:32749217). It forms a molecular complex with CLC-7 in late endosomes, lysosomes, and the osteoclast ruffled border, where a glycosylated dimer of OSTM1 covers the entire luminal surface of CLC-7 to shield it from lysosomal degradation and stabilize CLC-7 protein levels (PMID:16525474, PMID:32749217). Beyond stabilization, OSTM1 contributes to the slow common gating of the CLC-7 complex through interactions involving the CLC-7 N-terminus, transmembrane domain, and CBS domains, and physiologically slow voltage activation is itself required—accelerated gating alone is pathogenic (PMID:32851177, PMID:23983121, PMID:24159188). Protein-protein interaction and ion transport are separable functions: osteopetrosis requires both, hair pigmentation requires only complex presence, and neurodegeneration is exacerbated by Cl⁻ conductance (PMID:24820037). OSTM1 also acts as a cytosolic scaffolding adaptor that binds KIF5B heavy chains to direct trafficking of cargo toward late endosomal/lysosomal compartments (PMID:26598607), and it positions lysosomes at the cell periphery together with SNX10 and CLC-7 to control osteoclast fusion arrest and resorptive function (PMID:41408708). Loss of OSTM1 in osteoclasts causes oversized, hyperfused cells with elevated intracellular calcium and NFATc1 nuclear relocalization, establishing OSTM1 as a negative regulator of preosteoclast fusion (PMID:29297601, PMID:25359771). OSTM1 is independently essential for neuronal autophagy homeostasis, with its loss causing autophagosome accumulation, mTOR downregulation, and storage of undegraded macromolecules (PMID:24719316), and for cell-autonomous T cell ontogeny via a Foxo1-Klf2-S1pr1-Gnai1-Rac1 axis (PMID:35434560). Mutations disrupting OSTM1 or the CLC-7/OSTM1 complex cause osteopetrosis (PMID:24820037, PMID:24159188).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2006 High

    Established the foundational identity of OSTM1 as the β-subunit of CLC-7, answering what molecular partner explains the shared osteopetrotic phenotype of Ostm1 and Clcn7 loss.

    Evidence Reciprocal co-immunoprecipitation, subcellular co-localization, and CLC-7 protein-level analysis in grey-lethal mice

    PMID:16525474

    Open questions at the time
    • Did not resolve the structural basis of the interaction
    • Did not separate the stabilization role from a gating/regulatory role
  2. 2006 Medium

    Identified how OSTM1 expression is transcriptionally coupled to osteoclastogenesis, showing MITF directly drives Ostm1 in concert with Clcn7.

    Evidence EMSA with anti-MITF supershift and M-box mutation, ChIP, and reporter assays during osteoclast differentiation

    PMID:17105730

    Open questions at the time
    • Single lab
    • Does not address post-transcriptional or trafficking regulation of OSTM1
  3. 2008 Medium

    Demonstrated that OSTM1 function extends beyond osteoclasts into multiple hematopoietic lineages, reframing the osteopetrotic defect as non-cell-autonomous at the committed-osteoclast stage.

    Evidence Cell-type-specific conditional transgenic rescue (osteoclast-restricted vs PU.1-driven) and flow cytometry of hematopoietic lineages

    PMID:18790735

    Open questions at the time
    • Molecular function in lymphoid lineages not defined
    • Apparent tension with later osteoclast-intrinsic rescue data
  4. 2008 Medium

    Linked OSTM1 to Wnt/β-catenin signaling, proposing a function distinct from its lysosomal CLC-7 role.

    Evidence Overexpression/knockdown in F9 cells, Lef/Tcf reporter assays, and β-catenin/Lef1 co-IP

    PMID:18296023

    Open questions at the time
    • Single lab and cell line
    • Mechanistic connection to the lysosomal/CLC-7 function unresolved
    • No in vivo confirmation
  5. 2013 High

    Defined the biophysical mechanism of CLC-7/OSTM1 gating, showing slow activation is common gating dependent on the CBS-containing C-terminus.

    Evidence Electrophysiology with CLC-7 mutants and trans-complementation of truncated constructs in heterologous cells

    PMID:23983121

    Open questions at the time
    • Did not establish OSTM1's direct contribution to gating
    • Physiological role of slow gating not yet demonstrated
  6. 2013 Medium

    Provided causal evidence that slow gating is physiologically required, identifying a CBS2 mutation that accelerates gating and causes osteopetrosis despite intact complex assembly.

    Evidence Autozygosity mapping, genome sequencing, electrophysiology, and lysosomal localization in bovine osteopetrosis

    PMID:24159188

    Open questions at the time
    • Single natural mutation
    • Mechanism linking gating speed to bone resorption not detailed
  7. 2014 High

    Dissected protein-presence versus ion-transport contributions, establishing that distinct CLC-7/OSTM1-related phenotypes have separable molecular requirements.

    Evidence Transport-deficient CLC-7 knock-in mice with multi-phenotype analysis

    PMID:24820037

    Open questions at the time
    • Does not explain why pigmentation tolerates transport loss
    • Downstream effectors of Cl⁻ conductance in neurodegeneration unknown
  8. 2014 Medium

    Revealed a cell-autonomous neuronal role for OSTM1 in autophagy homeostasis independent of the hematopoietic compartment.

    Evidence Cell-type-specific transgenic rescue, autophagosome/mTOR markers, and storage-material histology in Ostm1-null mice

    PMID:24719316

    Open questions at the time
    • Whether autophagy defect is downstream of CLC-7 dysfunction unresolved
    • Single lab
  9. 2014 Medium

    Showed a secreted truncated OSTM1 can act extracellularly to inhibit osteoclast fusion, introducing a ligand-like activity for the protein.

    Evidence Cell-surface binding, osteoclast differentiation assays, BLIMP1-NFATc1 expression analysis, and in vivo bone destruction model

    PMID:25359771

    Open questions at the time
    • Surface receptor for truncated OSTM1 not identified
    • Relationship to full-length membrane function unclear
  10. 2015 Medium

    Identified a cytosolic scaffolding/trafficking function for OSTM1, showing direct binding to KIF5B that links it to motor-driven cargo transport.

    Evidence Protein screen, co-IP with KIF5B, subcellular fractionation, and glycosylation analysis

    PMID:26598607

    Open questions at the time
    • Cargo identity incompletely defined
    • How trafficking role coordinates with CLC-7 β-subunit role unknown
  11. 2018 Medium

    Established osteoclast-intrinsic sufficiency and defined OSTM1 as a negative regulator of preosteoclast fusion acting through calcium and NFATc1.

    Evidence Conditional transmembrane-domain deletion in osteoclasts, calcium imaging, NFATc1 nuclear localization, and endolysosomal trafficking analysis

    PMID:29297601

    Open questions at the time
    • Mechanism linking OSTM1 loss to calcium elevation unresolved
    • Single lab
  12. 2020 High

    Resolved the structural architecture of the complex, showing an OSTM1 dimer caps and shields the CLC-7 luminal face while the membrane-embedded interface tunes slow gating.

    Evidence Cryo-EM structures of CLC-7 alone and CLC-7/OSTM1 with accompanying electrophysiology

    PMID:32749217 PMID:32851177

    Open questions at the time
    • Conformational states underlying gating transitions not fully captured
    • Structural basis of disease mutations not all mapped
  13. 2022 Medium

    Extended OSTM1's essential role to T cell development, identifying a Foxo1-Klf2-S1pr1-Gnai1-Rac1 axis disrupted by its loss.

    Evidence Conditional transgenic rescue, flow cytometry of thymic T cell subsets, and transcriptome analysis

    PMID:35434560

    Open questions at the time
    • Direct molecular link between OSTM1 and the signaling axis not defined
    • Whether lysosomal or scaffolding activity drives the phenotype unclear
  14. 2025 Medium

    Placed OSTM1 in a SNX10/CLC-7 lysosome-positioning module controlling osteoclast fusion arrest and resorption.

    Evidence Co-IP, immunofluorescence co-localization, and lysosome distribution analysis in knockout cells

    PMID:41408708

    Open questions at the time
    • Direct SNX10-OSTM1 interaction not shown
    • Mechanism coupling peripheral lysosome position to fusion control incomplete
  15. 2025 Low

    Proposed surface La protein as a downstream effector of OSTM1 loss in osteoclast hyperfusion.

    Evidence Surface immunofluorescence and inhibitory antibody rescue of fusion/resorption in OSTM1-KO osteoclasts (preprint)

    PMID:bio_10.1101_2025.09.07.674639

    Open questions at the time
    • No biochemical OSTM1-La interaction data
    • Single lab preprint, not peer-reviewed
    • Mechanism of La surface elevation unknown
  16. 2026 Medium

    Identified a moonlighting E3 ubiquitin ligase activity for cytosolic non-glycosylated OSTM1 that degrades PDE3B to sustain cAMP/PKA/CREB tumor suppression in B cells.

    Evidence Whole-genome CRISPR screen, B-cell conditional knockout mice, E3 ligase and PDE3B ubiquitination/degradation assays (preprint)

    PMID:41659680

    Open questions at the time
    • Preprint, not yet peer-reviewed
    • Structural basis of ligase activity unknown
    • Relationship between cytosolic ligase pool and membrane CLC-7 pool unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How OSTM1's distinct activities—CLC-7 β-subunit, KIF5B-linked trafficking adaptor, and cytosolic E3 ligase—are partitioned and coordinated within a single protein remains unresolved.
  • No unifying model linking glycosylated membrane and non-glycosylated cytosolic pools
  • Substrate range of the E3 ligase activity beyond PDE3B unknown
  • Mechanistic basis for tissue-specific phenotypes incomplete

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 4 GO:0060090 molecular adaptor activity 2 GO:0016874 ligase activity 1 GO:0140096 catalytic activity, acting on a protein 1
Localization
GO:0005764 lysosome 3 GO:0005768 endosome 2 GO:0005829 cytosol 2 GO:0005886 plasma membrane 2 GO:0005783 endoplasmic reticulum 1 GO:0005794 Golgi apparatus 1
Pathway
R-HSA-382551 Transport of small molecules 3 R-HSA-1266738 Developmental Biology 2 R-HSA-9609507 Protein localization 2 R-HSA-9612973 Autophagy 1
Partners
CLCN7KIF5BPDE3BSNX10
Complex memberships
CLC-7/OSTM1 chloride/proton exchanger

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 OSTM1 (Ostm1) forms a molecular complex with ClC-7, co-localizing in late endosomes and lysosomes and in the ruffled border of bone-resorbing osteoclasts, functioning as a β-subunit of ClC-7. ClC-7 is required for Ostm1 to reach lysosomes, where the highly glycosylated Ostm1 luminal domain is cleaved. In Ostm1-deficient (grey-lethal) mice, ClC-7 protein levels fall below 10% of normal, indicating Ostm1 is required for ClC-7 protein stability. Co-immunoprecipitation, subcellular co-localization (immunofluorescence/fractionation), protein level analysis in grey-lethal mice Nature High 16525474
2020 Cryo-EM structures of CLC-7 alone and in complex with OSTM1 at up to 2.8 Å resolution show that the luminal surface of CLC-7 is entirely covered by a dimer of heavily glycosylated and disulfide-bonded OSTM1, which protects CLC-7 from the degradative lysosomal lumen. OSTM1 binding causes only minor conformational changes in the ion-conduction pathway of CLC-7, potentially contributing to its regulatory role. Cryo-electron microscopy (cryo-EM) structural determination eLife High 32749217
2020 Cryo-EM structure of human CLC-7/Ostm1 complex reveals that Ostm1 functions as a lid positioned above CLC-7, interacting extensively with CLC-7 within the membrane. Structural analyses and electrophysiology studies indicate that the domain interaction interfaces between the amino terminus, TMD, and CBS domains of CLC-7 affect the slow gating kinetics of CLC-7/Ostm1. Cryo-EM structural determination combined with electrophysiology Science advances High 32851177
2013 Slow voltage-dependent activation of ClC-7/Ostm1 operates via common gating (acting on both subunits of the dimer simultaneously, not protopore gates). The CBS domain-containing C-terminus is required for currents and slow gating; when ClC-7 was truncated after the last intramembrane helix, currents were abolished but restored by co-expression of the C-terminus alone or fused to the Ostm1 C-terminus. Electrophysiology with ClC-7 mutants and trans-complementation of truncated constructs in heterologous expression The Journal of biological chemistry High 23983121
2014 Using ion transport-deficient ClC-7 knock-in mice (Clcn7td/td), it was established that both protein-protein interactions (presence of ClC-7/Ostm1 complex) and ion transport activity are mechanistically separable contributors to different ClC-7-related disease phenotypes: osteopetrosis requires both, whereas hair pigmentation requires only protein presence (not transport activity), and neurodegeneration is exacerbated by Cl− conductance. In vivo knock-in mouse models with defined transport-deficient mutations, phenotypic analysis EMBO reports High 24820037
2006 MITF transcription factor directly binds a single M-box in the Ostm1 promoter, as shown by EMSA with anti-MITF supershift and abolition of binding by M-box mutation, and by chromatin immunoprecipitation. MITF co-regulates Ostm1 expression during osteoclastogenesis in concert with Clcn7. EMSA, ChIP, reporter gene assay, microarray The Journal of biological chemistry Medium 17105730
2008 OSTM1 is required for Wnt/β-catenin canonical signaling: overexpression of OSTM1 in F9 cells increased Wnt3a-responsive β-catenin accumulation and Lef/Tcf-sensitive transcription, while knockdown attenuated Wnt3a signaling. Wild-type OSTM1 stimulated the Wnt-dependent association of β-catenin with Lef1, whereas an osteopetrosis-associated C-terminal deletion mutant inhibited this interaction and Lef/Tcf transcription even with constitutively active β-catenin, but not with a β-catenin/Lef chimera. Overexpression and knockdown in F9 cells, reporter gene assays, co-immunoprecipitation of β-catenin/Lef1 Cellular signalling Medium 18296023
2008 The gl (Ostm1-null) osteopetrotic defect is non-cell autonomous: conditional Ostm1 transgene targeted only to committed osteoclasts did not rescue the bone phenotype, but expression driven by PU.1 (broader hematopoietic cells) rescued osteoclast function as well as B- and T-lymphoid lineage phenotypes, establishing an essential role for Ostm1 in multiple hematopoietic cell types beyond osteoclasts. Conditional transgenic mouse rescue experiments, flow cytometric analysis of hematopoietic lineages The Journal of biological chemistry Medium 18790735
2014 In Ostm1-null mice, severe neurodegeneration is accompanied by accumulation of autophagosomes causing axonal swelling, downregulation of mTOR signaling, and storage of carbohydrates, lipids, and ubiquitinated proteins in neurons. Cell-type-specific transgenic rescue showed that Ostm1 has a primary and autonomous role in neuronal homeostasis independent of the hematopoietic lineage. Conditional transgenic mouse rescue, immunohistochemistry, autophagosome and mTOR pathway markers, cell-type specific targeting The Journal of biological chemistry Medium 24719316
2015 Ostm1 is a type I transmembrane protein (immature 34 kDa) that undergoes post-translational N-glycosylation to ~60 kDa mature form. It localizes to the endoplasmic reticulum, trans-Golgi network, and endosomes/lysosomes. A direct interaction between Ostm1 and kinesin 5B (KIF5B) heavy chains was demonstrated, placing Ostm1 in a cytosolic scaffolding multiprotein complex that acts as a trafficking adaptor for cargo movement from the ER to late endosomal/lysosomal compartments. Protein screen, co-immunoprecipitation, subcellular fractionation and localization, biochemical analysis of glycosylation Molecular and cellular biology Medium 26598607
2018 Conditional deletion of the Ostm1 transmembrane domain in osteoclasts alone reproduced the full osteopetrotic phenotype, demonstrating osteoclast-intrinsic deficiency is sufficient. Ostm1 loss of transmembrane domain causes oversized osteoclasts with enhanced multinucleation, elevated intracellular calcium, NFATc1 nuclear re-localization, and upregulation of NFATc1 target genes, establishing Ostm1 as a negative regulator of preosteoclast fusion. Mature osteoclasts show appropriate acidification levels but mislocalized endolysosomes, and TRAP/cathepsin K are sequestered intracellularly rather than secreted. Conditional mouse knock-in (transmembrane domain deletion), osteoclast culture, calcium imaging, NFATc1 nuclear localization assay, lysosomal trafficking analysis Journal of bone and mineral research Medium 29297601
2014 A secreted truncated form of OSTM1 (lacking the transmembrane domain) binds to the cell surface of osteoclast precursors and inhibits multinucleated osteoclast formation by reducing cell fusion and survival, acting through downregulation of the BLIMP1-NFATc1 transcriptional axis. In vivo, truncated OSTM1 reduced LPS-induced bone destruction. Cell surface binding assay, osteoclast differentiation assay, gene expression analysis, in vivo bone destruction model The Journal of biological chemistry Medium 25359771
2013 A missense mutation (Y750Q) in the CBS2 domain of ClC-7 largely preserves lysosomal localization and assembly of the ClC-7/Ostm1 complex but drastically accelerates voltage-dependent gating of ClC-7/Ostm1, causing osteopetrosis in cattle. This provides direct evidence that accelerated ClC-7/Ostm1 gating per se is pathogenic, demonstrating a physiological requirement for slow voltage activation. Autozygosity mapping, genome sequencing, electrophysiology, lysosomal localization assay in cell models Disease models & mechanisms Medium 24159188
2022 Ostm1 is an essential regulator of T cell ontogeny: Ostm1 ablation caused a cell-autonomous defect in early T cell precursors (ETP, DN subpopulations) in the thymus. Transcriptome analysis identified an Ostm1 crosstalk with a Foxo1-Klf2-S1pr1-Gnai1-Rac1 signaling axis in DN1 T cells. Transgenic rescue of Ostm1 in DN1 cells partially rescued T cell subpopulations from ETP onwards. Conditional transgenic rescue, flow cytometry of T cell subpopulations, transcriptome analysis iScience Medium 35434560
2025 SNX10 physically interacts with CLC-7 (co-immunoprecipitation), and loss of SNX10 reduces peripheral LAMP1-positive lysosomes containing CLC-7 and OSTM1. Loss of CLC-7 also depletes peripheral OSTM1-containing lysosomes. All three proteins (SNX10, CLC-7, OSTM1) co-localize in LAMP1-positive lysosomes and regulate lysosome trafficking to the cell periphery, which controls both fusion arrest and functionality of mature osteoclasts. Co-immunoprecipitation, immunofluorescence co-localization, knockout cell culture, lysosome distribution analysis Journal of bone and mineral research Medium 41408708
2026 A cytosolic, non-glycosylated fraction of OSTM1 functions as an E3 ubiquitin ligase that targets phosphodiesterase 3B (PDE3B) for proteasomal degradation. Loss of OSTM1 stabilizes PDE3B, which increases conversion of cAMP to AMP and suppresses the cAMP/PKA/CREB tumor suppressive pathway, thereby promoting B-cell lymphomagenesis. Whole-genome CRISPR screen, B-cell-specific Ostm1 conditional knockout mouse, E3 ligase activity assay, PDE3B ubiquitination and degradation assays, cAMP/PKA/CREB pathway analysis bioRxivpreprint Medium 41659680
2025 La protein is greatly elevated at the surface of osteoclasts upon loss of OSTM1 (or SNX10). Inhibitory antibodies against La suppressed excessive osteoclast fusion and restored resorptive function in OSTM1-deficient osteoclasts, establishing a functional link between OSTM1 loss and dysregulated surface La in osteoclast hyperfusion. Immunofluorescence surface labeling, inhibitory antibody treatment, osteoclast fusion and resorption assays in OSTM1-KO cells bioRxivpreprint Low bio_10.1101_2025.09.07.674639

Source papers

Stage 0 corpus · 33 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2006 ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. Nature 271 16525474
2006 Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 81 16813530
2006 The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor. The Journal of biological chemistry 64 17105730
2020 Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. eLife 59 32749217
2010 Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1. Journal of neuropathology and experimental neurology 53 21107136
2020 Molecular insights into the human CLC-7/Ostm1 transporter. Science advances 50 32851177
2014 Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions. EMBO reports 50 24820037
2004 Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Human mutation 50 15108279
2013 Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1. The Journal of biological chemistry 40 23983121
2008 Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 38 17922613
2013 A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle. Disease models & mechanisms 37 24159188
2014 Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency. The Journal of biological chemistry 30 24719316
2008 OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling. Cellular signalling 23 18296023
2014 Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis. The Journal of biological chemistry 22 25359771
2008 OSTM1 bone defect reveals an intercellular hematopoietic crosstalk. The Journal of biological chemistry 22 18790735
2015 Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking. Molecular and cellular biology 21 26598607
2013 Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. Bone 21 23685543
2018 Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 19 29297601
2016 Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis. Blood advances 13 29296943
2017 Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. European journal of human genetics : EJHG 11 28612835
2020 Ostm1 from Mouse to Human: Insights into Osteoclast Maturation. International journal of molecular sciences 10 32764302
2017 ClC-7/Ostm1 contribute to the ability of tea polyphenols to maintain bone homeostasis in C57BL/6 mice, protecting against fluorosis. International journal of molecular medicine 10 28339032
2022 OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration. Bone 6 35902071
2022 LncRNA OSTM1-AS1 acts as an oncogenic factor in Wilms' tumor by regulating the miR-514a-3p/MELK axis. Anti-cancer drugs 6 35946509
2021 Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis. BMJ case reports 4 34011644
2012 Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1. Mammalian genome : official journal of the International Mammalian Genome Society 3 23160729
2025 Long non-coding RNA OSTM1-AS1 promotes renal cell carcinoma progression by sponging miR-491-5p and upregulating MMP-9. Scientific reports 2 39747324
2025 Oncogene OSTM1 Promotes Gastric-Cancer Metastasis by Modulating the Metastatic Microenvironment Through Altered Tumor-Cell Autocrine Signaling. Current issues in molecular biology 2 39852172
2022 A Foxo1-Klf2-S1pr1-Gnai1-Rac1 signaling axis is a critical mediator of Ostm1 regulatory network in T lymphopoiesis. iScience 2 35434560
2021 Expression pattern of the V5-Ostm1 protein in bacterial artificial chromosome transgenic mice. Genesis (New York, N.Y. : 2000) 2 33484096
2022 The clinical features of OSTM1-associated malignant infantile osteopetrosis: A retrospective, single-center experience over one decade. American journal of medical genetics. Part A 1 36369659
2026 OSTM1 is a ubiquitin E3 ligase that suppresses B-cell malignancy by activating the cAMP/PKA/CREB pathway. bioRxiv : the preprint server for biology 0 41659680
2025 The molecular and functional interplay between the osteopetrosis-associated proteins SNX10, OSTM1, and CLC-7 during mouse osteoclastogenesis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 0 41408708

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