DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V1A and retinitis pigmentosa 49

ATP6V1A [ENSP00000273398]

ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 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 ATPase alpha/beta chains family.

Synonyms:  ATP6V1A,  ATP6V1Ap,  hATP6V1A,  B7Z1R5,  B7Z2V6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM