ZNF273

Chr 7

zinc finger protein 273

Also known as: HZF9

NCBI Gene: 10793 ENSG00000198039 UniProt: Q14593 OMIM: 604756

This protein is a transcriptional regulator containing 13 C2H2-type zinc fingers and a KRAB domain that functions in the nucleus. Mutations cause autosomal dominant developmental delay with macrocephaly, seizures, and brain abnormalities. The gene shows relatively low constraint to loss-of-function variation, suggesting tolerance to protein-truncating variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

Multiple*

Mechanism· predicted