Disease-gene associations mined from literature

Literature associating ATP8A2 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATP8A2 [ENSP00000371070]

ATPase, aminophospholipid transporter, class I, type 8A, member 2; 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. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival.

Synonyms:  ATP8A2,  ATP8A2p,  hATP8A2,  F8W9B3,  Q9NTI2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM