Literature associating ATP6V0A2 and progressive myoclonus epilepsy 8
Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2; Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation; Belongs to the V-ATPase 116 kDa subunit family.
Synonyms: ATP6V0A2, B4DQF7, F5GX48, F5H5F3, F5H847 ...