DISEASES

Disease-gene associations mined from literature

Literature associating CCDC115 and congenital disorder of glycosylation type II

CCDC115 [ENSP00000259229]

Coiled-coil domain-containing protein 115; Accessory component of the proton-transporting vacuolar (V)- ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation . May be involved in Golgi homeostasis .

Synonyms:  CCDC115,  CCDC115p,  hCCDC115,  A0A024QZZ6,  B8ZZ99 ...

Linkouts:  STRING  Pharos  UniProt  OMIM