Aliases for ATP8A2 Gene
External Ids for ATP8A2 Gene
GeneCards Summary for ATP8A2 Gene
ATP8A2 (ATPase, Aminophospholipid Transporter, Class I, Type 8A, Member 2) is a Protein Coding gene. Diseases associated with ATP8A2 include cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 and cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include magnesium ion binding and phospholipid-translocating ATPase activity. An important paralog of this gene is ATP8B4.
UniProtKB/Swiss-Prot for ATP8A2 Gene
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