External Ids for ITGA7 Gene
Previous GeneCards Identifiers for ITGA7 Gene
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. [provided by RefSeq, Feb 2009]
GeneCards Summary for ITGA7 Gene
ITGA7 (Integrin Subunit Alpha 7) is a Protein Coding gene. Diseases associated with ITGA7 include Muscular Dystrophy, Congenital, Due To Itga7 Deficiency and Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include protein heterodimerization activity and cell adhesion molecule binding. An important paralog of this gene is ITGA6.
UniProtKB/Swiss-Prot for ITGA7 Gene
Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells.