DISEASES

Disease-gene associations mined from literature

ATP6V1D disease associations

ATP6V1D [ENSP00000216442]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM