DISEASES

Disease-gene associations mined from literature

Literature associating TMED4 and neuronal ceroid lipofuscinosis 8

TMED4 [ENSP00000404042]

Transmembrane emp24 domain-containing protein 4; Involved in vesicular protein trafficking, mainly in the early secretory pathway. targeting. Involved in the maintenance of the Golgi apparatus. Appears to play a role in the biosynthesis of secreted cargo including processing. Involved in endoplasmic reticulum stress response. May play a role in the regulation of heat-shock response and apoptosis (By similarity).

Synonyms:  TMED4,  TMED4p,  hTMED4,  F8W7F7,  Q7Z7H5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM