DISEASES

Disease-gene associations mined from literature

Literature associating TMEM199 and congenital disorder of glycosylation type II

TMEM199 [ENSP00000292114]

Transmembrane protein 199; 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:  TMEM199,  TMEM199p,  hTMEM199,  J3KRW7,  J3KS81 ...

Linkouts:  STRING  Pharos  UniProt