ATP6V1D disease associations
ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D; Subunit of the peripheral V1 complex of vacuolar ATPase. 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). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium.
Synonyms: ATP6V1D, ATP6V1Dp, hATP6V1D, A0A024R683, ATP6V1D-001 ...