ZBTB49

Chr 4

zinc finger and BTB domain containing 49

Also known as: ZNF509

NCBI Gene: 166793 ENSG00000168826 UniProt: Q6ZSB9 OMIM: 616238

ZBTB49 encodes a transcription factor that inhibits cell proliferation by activating CDKN1A/p21 and RB1 transcription, playing a role in cell cycle regulation. Mutations cause autosomal dominant developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and movement disorders. The gene shows tolerance to loss-of-function variants, suggesting that pathogenic variants may act through alternative mechanisms.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription factor binding activity; sequence-specific DNA binding activity; and transcription coactivator binding activity. Involved in negative regulation of cell population proliferation; positive regulation of transcription by RNA polymerase II; and regulation of cell cycle. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.90

LOEUF

Mechanism· predicted