ITGA4 Chromosome 2
Integrin subunit alpha 4
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What This Gene Does
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 in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"CD molecules|Integrin alpha subunits"
Locus Type
gene with protein product
Location
2q31.3
Ensembl
ENSG00000115232
Associated Conditions (1)
ITGA4-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1143675 | Health Risk | Conflicting classifications of pathogenicity | ITGA4-related disorder, ITGA4-related disorder |