DefinitionThis section has been translated automatically.
The ITGA6 gene(ITGA6 stands for: Integrin Subunit Alpha 6 ) is a protein-coding gene located on chromosome 2q31.1. The ITA6 gene encodes "integrin beta 6", a protein belonging to the integrin superfamily. Alternative splicing leads to several transcript variants.
General informationThis section has been translated automatically.
Integrin alpha-6/beta-1 (ITGA6:ITGB1) is thought to be a receptor for laminin on platelets. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is found in oocytes and is involved in sperm-egg fusion). Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and plays a critical structural role in the hemidesmosome. Integrin alpha-6/beta-4 binds to NRG1 (via the EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6:ITGB4 continues to bind to IGF1. This binding is essential for IGF1 signaling. Integrin alpha-6/beta-4 binds to IGF2. This binding is essential for IGF2 signaling.
Microbial infections: Integrin alpha-5:beta-6 acts as a receptor for coxsackievirus A9 and coxsackievirus B1. Furthermore, this integrin acts as a receptor for herpes simplex virus-1/HHV-1.
Clinical pictureThis section has been translated automatically.
Diseases associated with ITGA6 include epidermolysis bullosa junctionalis with pyloric atresia.
LiteratureThis section has been translated automatically.
- Pfendner EG et al (2017) Epidermolysis Bullosa with Pyloric Atresia. 2008 Feb 22 [updated 2017 Sep 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022.
- Zhou X et al. (2021) Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature. J Dermatol 48: 1780-1785.
