Gene Symbol | ITGB4 |
Entrez Gene ID | 3691 |
Full Name | integrin subunit beta 4 |
Synonyms | CD104,GP150 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa of hands and feet, 131800 (3) |