DISEASES

Disease-gene associations mined from literature

Literature associating YKT6 and alternating hemiplegia of childhood

YKT6 [ENSP00000223369]

Synaptobrevin homolog YKT6; 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.

Synonyms:  YKT6,  YKT6p,  hYKT6,  A4D2J0,  H7C3K7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM