DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V1H and hereditary retinal dystrophy

ATP6V1H [ENSP00000352522]

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes.

Synonyms:  ATP6V1H,  ATP6V1Hp,  hATP6V1H,  A0A024R7U9,  A0A024R7X3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM