DISEASES

Disease-gene associations mined from literature

Literature associating YKT6 and hypomyelinating leukodystrophy

YKT6 [ENSP00000223369]

YKT6 v-SNARE homolog (S. cerevisiae); Vesicular soluble NSF attachment protein receptor (v- SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity; SNAREs

Synonyms:  YKT6,  YKT6p,  hYKT6,  A4D2J0,  B4DR94 ...

Linkouts:  STRING  Pharos  UniProt  OMIM