ITGA7

Chr 12

integrin subunit alpha 7

NCBI Gene: 3679 ENSG00000135424 UniProt: Q13683

Integrin alpha-7 functions as a laminin receptor that is essential for skeletal muscle fiber anchorage, structural integrity, and myoblast migration during muscle development. Mutations cause autosomal recessive congenital muscular dystrophy due to ITGA7 deficiency, presenting in early infancy with muscle weakness and developmental delays. This gene is highly constrained against loss-of-function mutations, indicating its critical importance for normal muscle function.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy congenital due to integrin alpha-7 deficiency

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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