Version 2.78

Part Description

LP32677-4   ATP7A gene
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

Fully-Specified Name

Component
ATP7A gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
ATP7A gene Mut Anl Bld/T
Display Name
ATP7A gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
ATP7A gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.11
Last Updated
Version 2.66
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen ATP7A:presencia o identidad:punto en el tiempo:suero/plasma:Narrativo:genética molecular
es-ES Spanish (Spain) Gen ATP7A Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al gen ATP7A:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) ATP7A gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) ATP7A, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene ATP7A Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) ATP7A 유전자 돌연변이 분석:존재:검사시점:혈청/혈장:설명적인:분자유전
nl-NL Dutch (Netherlands) ATP7A-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: ATP7A gen molgen targeted
pt-BR Portuguese (Brazil) ATP7A análise de mutação genética:Ident:Pt:Sor/Plas:Nar:Genética molecular
Synonyms: MC1; MK; MNK; OHS; Menkes syndrome; Occipital horn syndrome; Identity or presence; Point in time; Random; SerPl; SerPlas; SerP; Serum; SR; Plasma; Pl; Plsm; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) ATP7A ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) ATP7A geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) ATP7A 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=34659-3