ZNF597

Chr 16

zinc finger protein 597

Also known as: HIT-4

NCBI Gene: 146434 ENSG00000167981 UniProt: Q96LX8

This gene encodes a zinc finger protein that may be involved in transcriptional regulation and is maternally expressed due to genomic imprinting. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, following a maternal inheritance pattern due to the gene's imprinted status. The gene shows low constraint against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]

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

Multiple*

Mechanism· predicted

Some data sources returned errors (2)