CASZ1

Chr 1

castor zinc finger 1

Also known as: CAS11, CST, SRG, ZNF693, dJ734G22.1

NCBI Gene: 54897 ENSG00000130940 UniProt: Q86V15 OMIM: 609895

The protein is a zinc finger transcription factor that activates transcription and regulates vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7. Mutations cause autosomal dominant neurodevelopmental disorder with seizures, microcephaly, and brain malformations, typically presenting in early infancy. The gene is highly constrained against loss-of-function variants, reflecting its critical role in normal development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.15

LOEUF· LoF intol.

LOF

Mechanism· predicted