DISEASES

Disease-gene associations mined from literature

Literature associating ITGB8 and hypoplastic right heart syndrome

ITGB8 [ENSP00000222573]

Integrin beta-8; Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin . It recognizes the sequence R-G-D in its ligands . Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity).

Synonyms:  ITGB8,  ITGB8p,  hITGB8,  P26012,  P26012p ...

Linkouts:  STRING  Pharos  UniProt  OMIM