Disease-gene associations mined from literature

Literature associating ATP10D and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATP10D [ENSP00000273859]

P4-ATPase flippase complex alpha subunit ATP10D; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.

Synonyms:  ATP10D,  ATP10Dp,  hATP10D,  Q6PEW3,  Q9P241 ...

Linkouts:  STRING  Pharos  UniProt