Disease-gene associations mined from literature

Literature associating ITGA5 and congenital muscular dystrophy due to integrin alpha-7 deficiency

ITGA5 [ENSP00000293379]

Integrin, alpha 5 (fibronectin receptor, alpha polypeptide); Integrin alpha-5/beta-1 is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1. ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1; CD molecules

Synonyms:  ITGA5,  ITGA5p,  hITGA5,  A0A024RB01,  B4E3F4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM