Gene: ITGA7

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.2

Description of this Gene: integrin subunit alpha 7

Type of Gene: protein-coding

rs1217190017 in ITGA7 gene and Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency PMID 9590299 1998 Mutations in the integrin alpha7 gene cause congenital myopathy.

rs3844368 in ITGA7 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs143053231 in ITGA7 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.