DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V0A2 and autosomal recessive cutis laxa type III

ATP6V0A2 [ENSP00000332247]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM