ITGA6 Gene

Last updated on: 08.08.2022

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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.

  1. 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.
  2. 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.

Last updated on: 08.08.2022