Disease-gene associations mined from literature

Literature associating NSF and syndromic X-linked intellectual disability Snyder type

NSF [ENSP00000381293]

N-ethylmaleimide-sensitive fusion protein; Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity); Belongs to the AAA ATPase family.

Synonyms:  NSF,  LOC101930324,  I3L4Q9,  NSF-001,  NSF-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM