ATP7B

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]

Description

ATPase, Cu++ transporting, beta polypeptide

Protein family

Enzymes, Membrane proteins predicted by MDM, Transporters

Chromosome

13:q14.3 (52506809 - 52585630)

Ensembl ID

ENSG00000123191  (ver. 69.37)

Orthologs

Mouse Atp7b: ENSMUSG00000006567

Human splice variants
Mouse splice variants