CAPZA2

Chr 7

capping actin protein of muscle Z-line subunit alpha 2

Also known as: CAPPA2, CAPZ

NCBI Gene: 830 ENSG00000198898 UniProt: P47755 OMIM: 601571

The encoded protein is the alpha subunit of Cap Z, an F-actin capping protein that regulates actin filament growth by binding to and blocking subunit exchange at the barbed ends of actin filaments in a calcium-independent manner. Mutations cause autosomal dominant developmental and epileptic encephalopathy with movement abnormalities. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have severe consequences.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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

0.16

LOEUF· LoF intol.

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Mechanism