ITGB4 : integrin subunit beta 4
Description
The ITGB4 (integrin subunit beta 4) is a protein-coding gene located on chromosome 17.
The ITGB4 gene provides instructions for making the Ξ²4 subunit of an integrin protein. Integrins are proteins that regulate cell-cell and cell-matrix adhesion, and transmit signals that regulate cell growth and gene activity. The integrin protein containing the Ξ²4 subunit is called Ξ±6Ξ²4 integrin, found primarily in epithelial cells. It plays a crucial role in strengthening and stabilizing the skin, being a component of hemidesmosomes, structures anchoring the epidermis to underlying layers. As part of a protein network in hemidesmosomes, Ξ±6Ξ²4 integrin helps hold the layers of skin together.
Integrin alpha-6/beta-4 is a receptor for laminin. It plays a critical structural role in the hemidesmosome of epithelial cells. It is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain), which is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 also binds to IGF1, and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 also binds to IGF2, and this binding is essential for IGF2 signaling (PubMed:28873464). {ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22351760, ECO:0000269|PubMed:28873464}
ITGB4 is also known as CD104, GP150, JEB5A, JEB5B.
Associated Diseases
- Epidermolysis bullosa, junctional 5A, intermediate
- Localized junctional epidermolysis bullosa
- Aplasia cutis congenita
- Epidermolysis bullosa, junctional, with pyloric atresia
- Epidermolysis bullosa simplex with pyloric atresia
- Intermediate generalized junctional epidermolysis bullosa
- Junctional epidermolysis bullosa with pyloric atresia
- Junctional epidermolysis bullosa
- Epidermolysis bullosa with pyloric atresia
