Version 2.78

Description

The ATP7A gene (ATPase, Cu++ transporting, alpha polypeptide) [HGNC Gene ID:869] is located on chromosome Xq21.1. This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013] [NCBI Gene ID:538] 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
ATP7A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-10-23
Construct for LOINC Short Name
ATP7A gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP32677-4
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ATP7A 基因
Synonyms: MC1;Menkes 卷发症候群;Menkes 卷发综合征;Menkes 综合征;Menkes 综合征(铜转运相关基因病, 罕见的性连锁隐性遗传病);MK;MNK;OHS;Steely hair syndrome;枕角综合征;枕角综合征(Occipital horn syndrome);枕骨角综合征;钢发综合征;门克斯病
et-EE Estonian (Estonia) ATP7A geen
es-ES Spanish (Spain) Gen ATP7A
it-IT Italian (Italy) ATP7A, gene
Synonyms: Gene ATP7A
tr-TR Turkish (Turkey) ATP7A geni
ru-RU Russian (Russian Federation) ATP7A ген
nl-NL Dutch (Netherlands) ATP7A-gen
Synonyms: ATP7A gen