Disease-gene associations mined from literature

Literature associating SNAP29 and Opitz-GBBB syndrome

SNAP29 [ENSP00000215730]

Vesicle-membrane fusion protein SNAP-29; SNAREs, soluble N-ethylmaleimide-sensitive factor- attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions; Belongs to the SNAP-25 family.

Synonyms:  SNAP29,  SNAP29p,  hSNAP29,  C9JAF7,  O95721 ...

Linkouts:  STRING  Pharos  UniProt  OMIM