Aliases for ATP8B4 Gene
External Ids for ATP8B4 Gene
Previous GeneCards Identifiers for ATP8B4 Gene
This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
GeneCards Summary for ATP8B4 Gene
ATP8B4 (ATPase Phospholipid Transporting 8B4 (Putative)) is a Protein Coding gene. Diseases associated with ATP8B4 include Cholestasis, Benign Recurrent Intrahepatic, 1 and Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1. Among its related pathways are Innate Immune System and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP8B2.
UniProtKB/Swiss-Prot Summary for ATP8B4 Gene
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).