ITGAE

Chr 17

integrin subunit alpha E

Also known as: CD103, HUMINAE

NCBI Gene: 3682 ENSG00000083457 UniProt: P38570 OMIM: 604682

The ITGAE protein is an integrin alpha subunit that pairs with integrin beta-7 to form a receptor for E-cadherin, mediating adhesion of intraepithelial T-lymphocytes to epithelial cells in the intestinal mucosa. Mutations in ITGAE cause autosomal recessive inflammatory bowel disease, typically presenting in infancy or early childhood with severe diarrhea and intestinal inflammation. The gene shows tolerance to loss-of-function variants in the general population, suggesting that biallelic mutations are required for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

Multiple*

Mechanism· predicted