FLYWCH1

Chr 16

FLYWCH-type zinc finger 1

NCBI Gene: 84256 ENSG00000059122 UniProt: Q4VC44 OMIM: 620431

FLYWCH1 encodes a transcription cofactor that negatively regulates gene transcription and participates in DNA damage response signaling. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, seizures, and behavioral abnormalities. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Enables transcription coactivator binding activity and transcription corepressor activity. Involved in DNA damage response and negative regulation of transcription by RNA polymerase II. Located in cytosol; nuclear body; and pericentric heterochromatin. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)