Gene: ITGA3

Alternate names for this Gene: CD49C|FRP-2|GAP-B3|GAPB3|ILNEB|MSK18|VCA-2|VL3A|VLA3a

Gene Summary: The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.33

Description of this Gene: integrin subunit alpha 3

Type of Gene: protein-coding

rs540704248 in ITGA3 gene and INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 27717396 2016 Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

PMID 22512483 2012 Integrin α3 mutations with kidney, lung, and skin disease.

rs4793636 in ITGA3 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.