ATP7B (ATPase, Cu++ transporting, ß polypeptide) gene is mapped to human chromosome 13. It is expressed predominantly in liver, kidney, and placenta in humans. The 1465 amino acid long protein contains eight transmembrane segments, six copper-binding motifs at its N-terminus, a CPC motif in an intramembranous region, and a SEHPL motif.
Synonyms: Anti-Copper pump 2; Anti-Copper-transporting ATPase 2; Anti-Wilson disease-associated protein
Storage: -20C
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Biochem Physiol Actions: ATP7B (ATPase, Cu++ transporting, ß polypeptide) gene encodes a protein belonging to the P-type cation transport ATPase family. The encoded protein contains is involved in the transport of copper out of the cells, such as the efflux of hepatic copper into the bile. Mutations in this gene have been associated with Wilson's disease.
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