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Wilson disease protein
Wilson disease protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ''ATP7B'' gene. ATP7B protein locates in trans-Golgi network of liver and brain, balances the copper level in the body by excrete excess copper into bile and plasma. Genetic disorder of ATP7B gene may cause Wilson's disease, a disease in which copper accumulates in tissues leading to neurological or psychiatric issues and liver diseases.
== Gene ==
Wilson disease protein is associated with ''ATP7B'' gene,approximate 80 Kb, located on human chromosome 13 and consists of 21 exons.The mRNA transcribed by ''ATP7B'' gene has a size of 7.5 Kb, and which encodes a protein of 1465 amino acids.
The 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 two 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.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=540 )〕 Wilson disease is caused by various mutations. One of the common mutations is single base pair mutation,H1069Q.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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