rs141486781

This variant is located in the ITGA7 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

Congenital muscular dystrophy due to integrin alpha-7 deficiency; not provided

About ITGA7

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]

View all ITGA7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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