ITGA7 Antibody – Rabbit

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]

ITGA7: 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. Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells. Defects in ITGA7 are the cause of muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI). A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. Belongs to the integrin alpha chain family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 12q13

Cellular Component: muscle tendon junction; cell surface; cytoplasm; plasma membrane; neuromuscular junction; sarcolemma

Molecular Function: integrin binding; protein heterodimerization activity; metal ion binding; laminin binding

Biological Process: integrin-mediated signaling pathway; regulation of cell shape; heterotypic cell-cell adhesion; muscle development; cell migration; skeletal muscle development; extracellular matrix organization and biogenesis; cell-matrix adhesion; blood vessel morphogenesis

Disease: Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency