ITGAV

Chr 2

integrin subunit alpha V

Also known as: CD51, IDNDC, MSK8, VNRA, VTNR

NCBI Gene: 3685 ENSG00000138448 UniProt: P06756

The alpha-V integrin subunit forms heterodimeric cell surface receptors that bind multiple extracellular matrix proteins and growth factors, mediating cell adhesion, signaling, and TGF-beta activation. Biallelic mutations cause autosomal recessive immune dysregulation with neurodevelopmental defects and colitis. This gene is highly intolerant to loss-of-function variants in the general population, indicating that heterozygous loss alone is likely insufficient to cause disease.

ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmune dysregulation, neurodevelopmental defects, and colitis

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

122

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)