Literature associating ATP6V1H and hereditary retinal dystrophy
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 ...