ZNF717

Chr 3

zinc finger protein 717

Also known as: OB1, X17, ZNF838

NCBI Gene: 100131827 ENSG00000227124 UniProt: Q9BY31 OMIM: 618405

The protein is a KRAB zinc-finger transcriptional regulator that binds nucleic acids and controls cellular functions including proliferation, differentiation, and apoptosis. Mutations cause neurodevelopmental disorder with epilepsy, which follows an autosomal dominant inheritance pattern. The gene shows low constraint against loss-of-function variants, suggesting the disorder may not result from simple protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.91

LOEUF

Multiple*

Mechanism· predicted