Integrin alpha-7 gene is mapped on chromosome 12q13.2 containing 31 exons belongs to theintegrin alpha chain family that is heterodimeric integral membrane proteins with 3 cytoplasmic and 2 extracellular transcript variants isoforms. It is a laminin receptor on skeletal myoblasts and adult myofibers where it induces changes in the shape and mobility of myoblasts thus, facilitates localization at laminin-rich sites of secondary fiber formation.
Integrin alpha-7 is mainly expressed in skeletal muscle while moderately in cardiac muscle, colon, ovary, small intestine, prostate, lung and testes. It also represents an indispensable linkage between the muscle fiber and the extracellular matrix independent of the dystrophin-dystroglycan complex mediated interaction of the cytoskeleton with the muscle basement membrane. It mediates broad spectrum of cell matrix interactions, morphologic development, cell migration, differentiation and metastasis.
Integrin alpha-7 gene mutation in implicated in congenital muscular dystrophy exposed at birth or after few months of life characterized by hypotonia, joint contractures and muscle weakness and it is needed to promote contractile phenotype acquirement of differentiated smooth muscle cells.
Gene name: ITGA7
Protein name: Integrin alpha-7