ATP7A, Official Symbol ATP7Aprovided by HGNC Official Full Name ATPase copper transporting alphaprovided by HGNC Primary source HGNC:HGNC:869 See related Ensembl:ENSG00000165240 MIM:300011; AllianceGenome:HGNC:869 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MK; MNK; DSMAX; SMAX3 Summary 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] Expression Ubiquitous expression in skin (RPKM 5.4), thyroid (RPKM 2.9) and 25 other tissues See more Orthologs mouse all