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MNK / ATP7A
ATPase, Cu++ transporting, alpha polypeptide
MNK / ATP7A is 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.
| Gene Name: | ATPase, Cu++ transporting, alpha polypeptide |
| Family/Subfamily: | Transporter , ATPase - P type, type IB |
| Synonyms: | ATP7A, Copper pump 1, Menkes disease ATPase, MNK, MK, SMAX3, Menkes syndrome, OHS, Copper-transporting ATPase 1, DSMAX, MC1 |
| Target Sequences: | NM_000052 NP_000043.4 Q04656 |
Publications (1)
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