Version 2.78

Description

The ATP7B gene (ATPase, Cu++ transporting, beta polypeptide) [HGNC Gene ID:870] is located on chromosome 13q14.3. 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] [NCBI Gene ID:540] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
ATP7B gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
ATP7B gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19656-5
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ATP7B 基因
Synonyms: ATP 酶基因;ATPase 基因;CU(2+)-转运 Beta 多肽;CU(2+)-转运β多肽;PWD;WC1;Wilson 病;WND;三磷酸腺苷酶基因;威尔森氏症;威尔逊病;肝豆状核变性;腺苷三磷酸酶基因;铜(2+)-转运 Beta 多肽;铜(2+)-转运β多肽;铜离子转运 Beta 多肽;铜离子-转运 Beta 多肽;铜离子转运β多肽;铜离子-转运β多肽
et-EE Estonian (Estonia) ATP7B geen
es-ES Spanish (Spain) Gen ATP7B
it-IT Italian (Italy) ATP7B, gene
Synonyms: Gene ATP7B
tr-TR Turkish (Turkey) ATP7B geni
ru-RU Russian (Russian Federation) ATP7B ген
nl-NL Dutch (Netherlands) ATP7B-gen
Synonyms: ATP7B gen