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 β4 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 β4 subunit is called α6β4 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, α6β4 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

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing