Disease-gene associations mined from literature

Literature associating STX5 and hypomyelinating leukodystrophy

STX5 [ENSP00000294179]

Syntaxin 5; Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus; Syntaxins

Synonyms:  STX5,  STX5p,  hSTX5,  B4DKR0,  E9PNU4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM