Aliases for ATP7A Gene
External Ids for ATP7A Gene
Previous HGNC Symbols for ATP7A Gene
Previous GeneCards Identifiers for ATP7A Gene
This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
GeneCards Summary for ATP7A Gene
ATP7A (ATPase Copper Transporting Alpha) is a Protein Coding gene. Diseases associated with ATP7A include Menkes Disease and Occipital Horn Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Defensins. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP7B.
UniProtKB/Swiss-Prot for ATP7A Gene
May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.