Disease-gene associations mined from literature

Literature associating SNTA1 and Jervell-Lange Nielsen syndrome

SNTA1 [ENSP00000217381]

59 kDa dystrophin-associated protein A1 acidic component 1; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity); PDZ domain containing

Synonyms:  SNTA1,  SNTA1p,  hSNTA1,  B3KTR0,  Q13424 ...

Linkouts:  STRING  Pharos  UniProt  OMIM