DISEASES

Disease-gene associations mined from literature

Literature associating ITGA6 and hyaline fibromatosis syndrome

ITGA6 [ENSP00000386896]

Integrin alpha-6 heavy chain; Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling . ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling . ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling . ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22351760,

Synonyms:  ITGA6,  ITGA6p,  hITGA6,  C9JXX7,  H7BZ97 ...

Linkouts:  STRING  Pharos  UniProt  OMIM