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Wilson disease protein information


ATP7B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesATP7B, PWD, WC1, WD, WND, ATPase copper transporting beta
External IDsOMIM: 606882; MGI: 103297; HomoloGene: 20063; GeneCards: ATP7B; OMA:ATP7B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000053
NM_001005918
NM_001243182
NM_001330578
NM_001330579

NM_007511

RefSeq (protein)

NP_031537
NP_001390638

Location (UCSC)Chr 13: 51.93 – 52.01 MbChr 8: 22.48 – 22.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Physiological pathway of copper in human body. Cu = copper, CP = ceruloplasmin, ATP7B protein is in Hepatocyte.
Simple model of structural feature of ATP7B protein. Cu=Copper binding motif

Wilson disease protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ATP7B gene. The ATP7B protein is located in the trans-Golgi network of the liver and brain and balances the copper level in the body by excreting excess copper into bile and plasma. Genetic disorder of the ATP7B gene may cause Wilson's disease, a disease in which copper accumulates in tissues, leading to neurological or psychiatric issues and liver diseases.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000123191 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006567 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

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