ITGB1

Chr 10

integrin subunit beta 1

Also known as: CD29, FNRB, GPIIA, MDF2, MSK12, VLA-BETA, VLAB

NCBI Gene: 3688 ENSG00000150093 UniProt: P05556 OMIM: 135630

The ITGB1 protein forms heterodimeric integrin receptors with various alpha subunits that mediate cell adhesion to extracellular matrix components including collagen, fibronectin, and laminin, playing critical roles in cell migration, tissue development, and vascular function. Mutations cause autosomal recessive congenital glanzmann thrombasthenia-like bleeding disorder and Ehlers-Danlos syndrome with bleeding diathesis, affecting hemostasis and connective tissue integrity. This gene is highly constrained against loss-of-function variants (pLI = 0.98), indicating that biallelic mutations are likely required for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [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

375

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

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Mechanism