Disease-gene associations mined from literature

Literature associating ATP8A1 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATP8A1 [ENSP00000371084]

ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1; 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. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Acts as aminophospholipid translocase at the plasma membrane in neuronal cells.

Synonyms:  ATP8A1,  ATP8A1p,  hATP8A1,  H0YAA1,  H0YAF4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM