Full name: ATPase copper transporting alpha

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DSMAX; MK; MNK; 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

Gene size: 139703bp

Exon count: 23