Full name: ATPase, Cu++ transporting, alpha polypeptide

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: MNK

Summary: Enables P-type divalent copper transporter activity and superoxide dismutase copper chaperone activity. Acts upstream of or within several processes, including animal organ development; cellular biogenic amine metabolic process; and copper ion transport. Located in several cellular components, including cytoplasmic vesicle membrane; neuronal cell body; and trans-Golgi network membrane. Is expressed in several structures, including genitourinary system; gut mucosa; liver; spleen; and thoracic ganglion. Used to study Menkes disease; X-linked distal spinal muscular atrophy 3; aortic aneurysm; and osteoarthritis. Human ortholog(s) of this gene implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to human ATP7A (ATPase copper transporting alpha). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Broad expression in placenta adult (RPKM 10.0), liver E18 (RPKM 4.8) and 24 other tissues

Gene size: 100937bp

Exon count: 23