DISEASES

Disease-gene associations mined from literature

Literature associating ADAM17 and fetal alcohol syndrome

ADAM17 [ENSP00000309968]

Disintegrin and metalloproteinase domain-containing protein 17; Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form . Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface . Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein . Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) . Plays a role in the proteolytic processing of ACE2 . Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). ECO:0000269|PubMed:12441351, ECO:0000269|PubMed:20592283, ECO:0000269|PubMed:24226769, ECO:0000269|PubMed:24227843,

Synonyms:  ADAM17,  ADAM17p,  hADAM17,  A0A3B3ISQ1,  A0A3B3IST4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM