Affinage

WAC

WW domain-containing adapter protein with coiled-coil · UniProt Q9BTA9

Length
647 aa
Mass
70.7 kDa
Annotated
2026-06-11
46 papers in source corpus 15 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

WAC is a WW domain- and coiled-coil-containing adaptor protein that couples active transcription to chromatin modification and serves as a multifunctional scaffold across nuclear, Golgi, and autophagy compartments. Its best-characterized role is to drive transcription-coupled histone H2B monoubiquitination: its N-terminal WW domain engages RNA polymerase II while its C-terminal coiled-coil region binds and stimulates the RNF20/RNF40 E3 ligase, targeting the ligase to active transcription sites, and WAC loss abolishes H2B ubiquitination (PMID:21329877). Structural modeling of the human RNF20/RNF40-WAC interface, validated by mutagenesis, defines electrostatic contacts that encode binding specificity essential for H2BUb1 catalysis (PMID:41533567). This activity has physiological consequences: WAC is required for plasma cell differentiation and antibody responses through global H2B ubiquitination (PMID:37171241), sustains MLL-rearranged leukaemic cells (PMID:28690313), and controls cartilage degradation by linking H2BK120ub1 to H3K27me3 via regulation of KDM6B nuclear entry (PMID:40893665). Independently of transcription, WAC regulates starvation-induced autophagy by suppressing GM130-mediated Golgi tethering of GABARAP, releasing a pericentriolar GABARAP pool to the phagophore to activate ULK kinase (PMID:26687599, PMID:22354037), and at the Golgi it binds the deubiquitinase VCIP135 and enhances its activity within the p97/p47 membrane fusion pathway (PMID:21811234). WAC additionally promotes timely mitotic entry by bridging Cdk1-phosphorylated WAC to the Plk1 polo-box domain and Aurora A to activate Plk1 (PMID:30021153), protects PINK1 from ubiquitin-dependent degradation to promote mitophagy (PMID:39555688), and modulates mTORC1 through nutrient-sensitive interactions with mTOR-mLST8, R2TP, and TELO2 (PMID:40653822). Neuronal WAC is required for normal habituation learning (PMID:26757981).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2002 Low

    An initial question was what cellular compartment and process this WW-domain adaptor belongs to; nuclear speckle colocalization first hinted at an RNA-processing connection.

    Evidence Immunofluorescence colocalization with splicing factor SC35 and phosphorylation detection

    PMID:11827461

    Open questions at the time
    • colocalization only, no functional consequence demonstrated
    • splicing role never mechanistically established in later work
    • tyrosine-phosphorylation significance unresolved
  2. 2011 High

    The central mechanistic role was established by showing WAC bridges RNA polymerase II to the RNF20/RNF40 ligase, defining it as the adaptor that couples transcription to H2B ubiquitination.

    Evidence Affinity purification, Co-IP, domain mutational analysis and siRNA depletion with H2B ubiquitination readout

    PMID:21329877

    Open questions at the time
    • structural basis of the RNF20/40 interface not resolved at this stage
    • downstream transcriptional targets undefined
  3. 2011 High

    A distinct cytoplasmic function was revealed at the Golgi, where WAC was shown to enhance VCIP135 deubiquitinase activity and is selectively required for p97/p47-mediated Golgi membrane fusion.

    Evidence Co-IP, in vitro Golgi reformation and deubiquitinase activity assays, immunofluorescence

    PMID:21811234

    Open questions at the time
    • how nuclear and Golgi pools are partitioned unknown
    • mechanism by which WAC stimulates VCIP135 unresolved
  4. 2012 Medium

    A genome-wide screen established WAC as a positive regulator of starvation-induced autophagosome formation, broadening its role beyond transcription.

    Evidence Genome-wide siRNA screen with GFP-LC3 reporter and knockdown validation

    PMID:22354037

    Open questions at the time
    • molecular mechanism not resolved in the screen
    • link between autophagy role and UPS regulation undefined
  5. 2015 High

    The autophagy mechanism was resolved: WAC suppresses GM130 tethering of GABARAP to free a pericentriolar GABARAP pool for phagophore delivery and ULK activation.

    Evidence Co-IP, knockdown, live-cell imaging, fractionation, in vitro ULK kinase assay and LIR mutagenesis

    PMID:26687599

    Open questions at the time
    • signal that triggers WAC-GM130 competition upon starvation unclear
    • relationship to WAC's nuclear function not addressed
  6. 2016 Medium

    Neuronal requirement was demonstrated by showing the Drosophila orthologue is needed for habituation learning, linking WAC to cognitive function.

    Evidence Neuronal RNAi knockdown in Drosophila with habituation behavioral assay

    PMID:26757981

    Open questions at the time
    • molecular pathway in neurons not defined
    • which WAC activity underlies the learning phenotype unknown
  7. 2017 Medium

    The transcriptional ligase pathway was given disease relevance by showing WAC is required to maintain MLL-rearranged leukaemic cells via H2B ubiquitination.

    Evidence siRNA knockdown with H2B ubiquitination and viability readout plus pharmacological inhibition

    PMID:28690313

    Open questions at the time
    • specific target genes driving leukaemic dependency undefined
    • selectivity over normal cells unaddressed
  8. 2018 High

    A cell-cycle function was established: Cdk1-phosphorylated WAC binds the Plk1 polo-box domain and Aurora A to activate Plk1 for timely mitotic entry.

    Evidence Co-IP, in vitro kinase assay, Plk1-binding-deficient mutant and rescue with mitotic entry readout

    PMID:30021153

    Open questions at the time
    • how this mitotic role integrates with WAC's chromatin function unclear
    • structural basis of WAC-PBD interaction not solved
  9. 2023 Medium

    In vivo significance of the H2B ubiquitination role was shown via a B cell-specific knockout that abolishes plasma cell differentiation and reduces global ubH2B.

    Evidence B cell-specific conditional knockout mouse, flow cytometry, ubH2B western blot, antibody response assay

    PMID:37171241

    Open questions at the time
    • specific metabolic target genes regulated not fully mapped
    • whether non-transcriptional WAC roles contribute unaddressed
  10. 2023 Medium

    Neuronal localization was characterized as developmentally dynamic, predominantly nuclear postnatally and perinuclear/axodendritic earlier, with a defined nuclear localization domain.

    Evidence Immunohistochemistry, Western blotting across brain stages, and domain-deletion fluorescence assays in neurons

    PMID:37106788 PMID:37402055

    Open questions at the time
    • functional consequence of subcellular redistribution not established
    • regulation of the nuclear localization domain unknown
  11. 2024 Medium

    A mitophagy function was identified: WAC binds PINK1 transmembrane domains and blocks K137 ubiquitination, stabilizing PINK1 to promote mitophagy and osteogenic differentiation.

    Evidence Co-IP, ubiquitination assay, K137 site mutagenesis, in vitro and in vivo bone formation assays

    PMID:39555688

    Open questions at the time
    • E3 ligase WAC competes with not identified
    • relationship to GABARAP-dependent autophagy role unclear
  12. 2025 Medium

    A nutrient-sensing function was proposed by showing direct WAC binding to mTOR-mLST8, R2TP, and TELO2 in nutrient-modulated complexes correlating with mTORC1 activity.

    Evidence In vitro binding with purified proteins and Co-IP under defined nutrient conditions plus omics

    PMID:40653822

    Open questions at the time
    • causal effect of WAC on mTORC1 output not demonstrated by loss-of-function
    • structural basis of binding unresolved
  13. 2025 Medium

    The epigenetic crosstalk role was extended by showing WAC controls H2BK120ub1 and influences H3K27me3 via KDM6B nuclear entry, with cartilage-specific knockout protecting against arthritis.

    Evidence Cartilage-specific conditional KO, ChIP for histone marks, nuclear fractionation for KDM6B, in vivo arthritis models

    PMID:40893665

    Open questions at the time
    • mechanism by which WAC regulates KDM6B import undefined
    • direct gene targets of the ub-methyl crosstalk not enumerated
  14. 2026 High

    The structural basis of the core adaptor function was defined, mapping the RNF20/RNF40-WAC interface and its electrostatic specificity determinants required for H2BUb1 catalysis.

    Evidence X-ray crystallography of yeast Bre1-Lge1, AlphaFold modeling of human RNF20/40-WAC, and mutagenesis with functional validation

    PMID:41533567

    Open questions at the time
    • full-length human complex not crystallized
    • how WW-domain Pol II engagement couples to ligase geometry unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unknown how WAC's distinct nuclear (H2B ubiquitination), Golgi/autophagy, mitotic, and nutrient-sensing activities are coordinated within a single cell and which are regulated by the same post-translational or localization switches.
  • no unifying regulatory model integrating compartment-specific functions
  • signals partitioning WAC between nucleus, Golgi, and centrosome undefined
  • in vivo loss-of-function for mTORC1 and mitophagy roles lacking

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0098772 molecular function regulator activity 4 GO:0042393 histone binding 2
Localization
GO:0005634 nucleus 3 GO:0005794 Golgi apparatus 2 GO:0005815 microtubule organizing center 1
Pathway
R-HSA-4839726 Chromatin organization 3 R-HSA-9612973 Autophagy 3 R-HSA-74160 Gene expression (Transcription) 2 R-HSA-1640170 Cell Cycle 1 R-HSA-5653656 Vesicle-mediated transport 1
Partners
GABARAPGM130MTORPINK1PLK1RNF20RNF40VCIP135
Complex memberships
RNF20/RNF40-WAC H2B ubiquitination complexp97/p47-VCIP135 Golgi membrane fusion complex

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2011 WAC was identified as a functional partner of RNF20/40 E3 ligase complex. WAC interacts with RNF20/40 through its C-terminal coiled-coil region and promotes RNF20/40's E3 ligase activity for histone H2B ubiquitination. The N-terminal WW domain of WAC recognizes RNA polymerase II, and WAC targets RNF20/40 to associate with the RNA polymerase II complex at active transcription sites. Depletion of WAC abolishes H2B ubiquitination. Protein affinity purification, Co-IP, domain mutational analysis, siRNA depletion with H2B ubiquitination readout Molecular cell High 21329877
2015 WAC and GM130 are both required for starvation-induced autophagy. GM130 directly interacts with WAC and tethers it to the Golgi. WAC and GM130 interact with the Atg8 homolog GABARAP and regulate its subcellular localization; GABARAP resides on the pericentriolar matrix and this pool contributes to autophagosome formation. WAC suppresses GM130 binding to GABARAP, enabling starvation-induced centrosomal GABARAP delivery to the phagophore to activate ULK kinase via the ULK1 LIR motif. Co-IP, siRNA knockdown, live-cell imaging, subcellular fractionation, in vitro ULK kinase assay, LIR motif mutagenesis Molecular cell High 26687599
2012 WAC is required for amino acid starvation-induced autophagy (autophagosome formation), identified in a genome-wide siRNA screen. WAC also acts as a potential negative regulator of the ubiquitin-proteasome system. Genome-wide siRNA screen using GFP-LC3 reporter cell line, validation by siRNA knockdown The EMBO journal Medium 22354037
2011 WAC localizes to both the Golgi and nucleus. At the Golgi, WAC is part of a complex containing VCIP135 (a deubiquitinase) and p97 ATPase. WAC directly binds VCIP135 and increases its deubiquitinating activity. WAC is required for p97/p47-mediated Golgi membrane fusion (Golgi biogenesis) but not for p97/p37-mediated reassembly, and is dispensable for p97-mediated ER membrane fusion. Co-IP, siRNA knockdown, in vitro Golgi reformation assay, in vitro deubiquitinase activity assay, immunofluorescence The EMBO journal High 21811234
2018 WAC promotes Polo-like kinase 1 (Plk1) activation for timely mitotic entry. Cdk1 phosphorylates WAC, priming its direct interaction with the polo-box domain of Plk1. WAC also binds Aurora A kinase (AurkA) and enhances Plk1 phosphorylation by AurkA in vitro. Knockdown of WAC compromises Plk1 activity and delays mitotic entry; these defects are rescued by wild-type WAC but not by a Plk1-binding-deficient mutant. Co-IP, in vitro kinase assay, domain mutational analysis (Plk1-binding-deficient mutant), siRNA knockdown with mitotic entry/Plk1 activity readout, rescue experiment Cell reports High 30021153
2002 WAC (identified initially as a WW domain-containing adaptor) colocalizes with splicing factor SC35 by immunofluorescence, suggesting a role in pre-mRNA splicing. WAC existed mainly in a tyrosine-phosphorylated form. Immunofluorescence colocalization, domain analysis (Rosetta stone/domain fusion bioinformatics), phosphorylation detection Genomics Low 11827461
2017 Knockdown of WAC phenocopies loss of H2B ubiquitination in MLL-rearranged ALL cells and causes cell death, demonstrating that the RNF20/RNF40/WAC E3 ligase complex is a pivotal pathway for MLL-rearranged leukaemic cell maintenance. HDAC inhibitor panobinostat suppresses this complex activity. siRNA knockdown of WAC with H2B ubiquitination and cell viability readout, pharmacological inhibition Leukemia Medium 28690313
2024 WAC protects PINK1 (a key initiator of mitophagy) from ubiquitination-dependent degradation by interacting with the transmembrane (TM) domains of PINK1 and preventing ubiquitination at PINK1's K137 site. This stabilization of PINK1 activates mitophagy and promotes MSC osteogenic differentiation. Co-IP, ubiquitination assay, site-directed mutagenesis (K137 site), knockdown/overexpression with mitophagy and osteogenesis readout, in vitro and in vivo bone formation assays Advanced science Medium 39555688
2023 WAC is essential for plasma cell (PC) differentiation in B cells. B cell-specific Wac knockout mice show severely compromised antibody responses and drastically reduced PC differentiation. Wac deficiency leads to a significant reduction in global histone H2B ubiquitination (ubH2B) in B cells, correlated with downregulated expression of genes critical for cell metabolism. B cell-specific conditional knockout mouse, flow cytometry for PC differentiation, H2B ubiquitination western blot, antibody response assay FEBS letters Medium 37171241
2025 WAC directly binds mTOR-mLST8, R2TP chaperone complex, and TELO2 (component of TTT chaperone), but not TTI1 or TTI2, as established with purified proteins. In cells, WAC forms complexes containing mTORC1, R2TP, and TTT components that are modulated by nutrient availability. WAC and TELO2 strongly associate with mTOR under glucose and glutamine deprivation, and these interactions are weakened after nutrient refeeding, correlating with changes in mTORC1 activity. In vitro binding assay with purified proteins, Co-IP in cells under nutrient-defined conditions, transcriptomic and proteomic analysis FEBS open bio Medium 40653822
2026 Crystal structure of the yeast Bre1-Lge1 complex and AlphaFold-predicted structure of the human RNF20/RNF40-WAC complex were determined and validated by in vitro and in vivo experiments. Extensive RNF20/RNF40-WAC interfaces were identified with key electrostatic interactions encoding binding specificity. These interactions are critical for H2BUb1 catalysis and the processes it regulates. The RNF20/RNF40-WAC and Bre1-Lge1 interfaces share structural homology but use different electrostatic interactions. X-ray crystallography (Bre1-Lge1), AlphaFold structural modeling (RNF20/RNF40-WAC), in vitro and in vivo mutagenesis and functional assays Nucleic acids research High 41533567
2025 WAC regulates cartilage degradation in arthritis by controlling H2BK120ub1 levels and influencing H3K27me3 through regulation of nuclear entry of the H3K27 demethylase KDM6B. WAC acts as a key factor in crosstalk between H2BK120ub1 and H3K27me3. Cartilage-specific knockout of WAC alleviates cartilage degradation in collagen-induced arthritis and collagenase-induced osteoarthritis mouse models. Cartilage-specific conditional knockout mouse, ChIP for H2BK120ub1 and H3K27me3, nuclear fractionation for KDM6B localization, in vitro and in vivo arthritis models Acta pharmaceutica sinica. B Medium 40893665
2016 Loss-of-function of the Drosophila WAC orthologue (CG8949) by neuronal knockdown impairs habituation learning in Drosophila, establishing that WAC is required in neurons for normal cognitive performance. Neuronal RNAi knockdown in Drosophila, habituation learning behavioral assay European journal of human genetics Medium 26757981
2023 WAC protein localizes predominantly in the nucleus of cortical neurons after birth and in hippocampal neurons, but is found in the perinuclear region at earlier developmental stages. WAC is also detected in axons and dendrites in a time-dependent manner in primary cultured hippocampal neurons. Nuclear localization is enriched postnatally in cerebral cortex, hippocampus, and cerebellum. Immunohistochemistry, Western blotting with stage-specific brain samples, immunofluorescence in primary cultured neurons Medical molecular morphology Medium 37402055
2023 A nuclear localization domain within WAC was identified and experimentally tested; deletion of this domain impacts the cellular distribution of the WAC protein in GABAergic neurons. Domain deletion constructs with fluorescence-based localization assay in cortical GABAergic neurons Biology Low 37106788

Source papers

Stage 0 corpus · 46 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription. Molecular cell 136 21329877
2015 Activation of ULK Kinase and Autophagy by GABARAP Trafficking from the Centrosome Is Regulated by WAC and GM130. Molecular cell 118 26687599
2012 Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC. The EMBO journal 101 22354037
2009 Wac: a new Augmin subunit required for chromosome alignment but not for acentrosomal microtubule assembly in female meiosis. The Journal of cell biology 59 19289792
2002 Binding of Acf1 to DNA involves a WAC motif and is important for ACF-mediated chromatin assembly. Molecular and cellular biology 52 12192034
2017 The HDAC inhibitor panobinostat (LBH589) exerts in vivo anti-leukaemic activity against MLL-rearranged acute lymphoblastic leukaemia and involves the RNF20/RNF40/WAC-H2B ubiquitination axis. Leukemia 51 28690313
2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. Journal of medical genetics 48 26264232
1994 Fibritin encoded by bacteriophage T4 gene wac has a parallel triple-stranded alpha-helical coiled-coil structure. Journal of molecular biology 43 7932704
2023 Small extracellular vesicles delivering lncRNA WAC-AS1 aggravate renal allograft ischemia‒reperfusion injury by inducing ferroptosis propagation. Cell death and differentiation 42 37532764
2021 Identification of Glycolysis-Related lncRNAs and the Novel lncRNA WAC-AS1 Promotes Glycolysis and Tumor Progression in Hepatocellular Carcinoma. Frontiers in oncology 39 34527595
2011 VCIP135 deubiquitinase and its binding protein, WAC, in p97ATPase-mediated membrane fusion. The EMBO journal 36 21811234
2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. European journal of human genetics : EJHG 35 26757981
2002 WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35. Genomics 28 11827461
2021 Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. The Journal of experimental medicine 24 33857290
2002 Transfer of the core region genes of the Yersinia enterocolitica WA-C serotype O:8 high-pathogenicity island to Y. enterocolitica MRS40, a strain with low levels of pathogenicity, confers a yersiniabactin biosynthesis phenotype and enhanced mouse virulence. Infection and immunity 22 11895945
2018 WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry. Cell reports 20 30021153
2020 A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). Genes 19 32214004
2024 WAC Facilitates Mitophagy-mediated MSC Osteogenesis and New Bone Formation via Protecting PINK1 from Ubiquitination-Dependent Degradation. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 13 39555688
2012 Coiling up with SCOC and WAC: two new regulators of starvation-induced autophagy. Autophagy 13 22717455
1991 The wac gene product of bacteriophage T4 contains coiled-coil structural patterns. Journal of biomolecular structure & dynamics 13 1878168
2013 Synthesis, biological evaluation, WAC and NMR studies of S-galactosides and non-carbohydrate ligands of cholera toxin based on polyhydroxyalkylfuroate moieties. Chemistry (Weinheim an der Bergstrasse, Germany) 12 24264882
2023 LncRNA WAC-AS1 promotes osteosarcoma Metastasis and stemness by sponging miR-5047 to upregulate SOX2. Biology direct 10 37957698
2022 Long non-coding RNA WAC antisense RNA 1 mediates hepatitis B virus replication <em>in vitro</em> by reinforcing miR-192-5p/ATG7-induced autophagy. European journal of histochemistry : EJH 10 36053263
2023 Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto-Shinawi Syndrome. Biology 8 37106788
2022 Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. American journal of medical genetics. Part A 7 35018708
2016 A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. American journal of medical genetics. Part A 7 27119754
2022 Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC. Molecular genetics & genomic medicine 6 35266333
2022 Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome. American journal of medical genetics. Part A 4 34997803
2022 Phenotypic and Brain Imaging Findings Associated With a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review. Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 4 35766809
2025 (R)-WAC-224, a new anticancer quinolone, combined with venetoclax and azacitidine overcomes venetoclax-resistant AML through MCL-1 downregulation. Scientific reports 3 40341200
2023 A novel anticancer quinolone, (R)-WAC-224, has anti-leukemia activities against acute myeloid leukemia. Investigational new drugs 3 37702844
2017 Direct analysis - no sample preparation - of bioavailable cortisol in human plasma by weak affinity chromatography (WAC). Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 3 28820982
2026 Structural insights into the Bre1-Lge1 and RNF20/RNF40-WAC interactions critical for H2B ubiquitination. Nucleic acids research 2 41533567
2025 Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome. bioRxiv : the preprint server for biology 2 38826421
2025 Inhibition of WAC alleviates the chondrocyte proinflammatory secretory phenotype and cartilage degradation via H2BK120ub1 and H3K27me3 coregulation. Acta pharmaceutica Sinica. B 2 40893665
2024 lncRNA WAC-AS1 promotes the progression of gastric cancer through miR-204-5p/HOXC8 axis. Translational oncology 2 39395273
2023 The histone H2B ubiquitination regulator Wac is essential for plasma cell differentiation. FEBS letters 2 37171241
2023 Expression analyses of WAC, a responsible gene for neurodevelopmental disorders, during mouse brain development. Medical molecular morphology 2 37402055
2025 The WAC-downWAC domain in the yeast ISW2 nucleosome remodeling complex forms a structural module essential for ISW2 function but not cell viability. Epigenetics & chromatin 1 40399979
2025 Characterization of WAC interactions with R2TP and TTT chaperone complexes linking glucose and glutamine availability to mTORC1 activity. FEBS open bio 1 40653822
2021 WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy. Medical oncology (Northwood, London, England) 1 34581882
2026 Loss of autism-associated gene wac alters social behavior and identifies cho-1 as a modulator of cholinergic signaling in C. elegans. bioRxiv : the preprint server for biology 0 42079044
2026 Neurobehavioral Impacts of the Autism Risk Gene, WAC: Studies Involving C. elegans and Mice. Molecular neurobiology 0 42247028
2025 Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India. Molecular and cellular pediatrics 0 40347397
2024 Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound. Taiwanese journal of obstetrics & gynecology 0 39004484
2024 Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype. Cureus 0 39493154

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