PARVB

Chr 22

parvin beta

Also known as: CGI-56

NCBI Gene: 29780 ENSG00000188677 UniProt: Q9HBI1 OMIM: 608121

The protein is an adapter protein that binds actin filaments and regulates integrin signaling, cytoskeleton reorganization, and cell adhesion through interactions with integrin-linked kinase and guanine exchange factors. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delays. This gene is extremely intolerant to loss-of-function variants, suggesting that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

OMIM 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

Mechanism· predicted

Some data sources returned errors (1)

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