ATP7B ATPase copper transporting beta
Gene ID: 540, updated on 3-Nov-2024Gene type: protein coding
Also known as: WD; PWD; WC1; WND
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- Go to complete Gene record for ATP7B
- Go to Variation Viewer for ATP7B variants
Summary
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 is a monomer, and functions as a copper-transporting ATPase which exports 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 which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Wilson disease | See labs |
Genomic context
- Location:
- 13q14.3
- Sequence:
- Chromosome: 13; NC_000013.11 (51932669..52012132, complement)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP7B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ATP7B @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- WilsonGen
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