This protein enhances ubiquitin ligase activity of RING-type E3 enzymes by recruiting and stabilizing E2 enzymes at the E3:substrate complex. MAGED4B mutations cause neurodevelopmental disorders with intellectual disability. The gene is X-linked and shows brain-specific expression.

OMIMResearchSummary from RefSeq, UniProt

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MAGED4B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

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Clinical Literature
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Key Publications
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PubMed
Top 1 results · since 2015Search PubMed ↗