DISEASES

Disease-gene associations mined from literature

Literature associating DNAJC5 and progressive myoclonus epilepsy 3

DNAJC5 [ENSP00000354111]

DnaJ (Hsp40) homolog, subfamily C, member 5; Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity); DNAJ heat shock proteins

Synonyms:  DNAJC5,  DNAJC5p,  hDNAJC5,  DKFZP761N1221,  DKFZP761N1221-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM