Version 2.78

Part Description

LP188488-3   AGA gene
The AGA gene (aspartylglucosaminidase) [HGNC Gene ID:318] is located on chromosome 4q34.3. Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010] [NCBI Gene ID:175] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
AGA gene
Property
Imp
Time
Pt
System
Ser
Scale
Nom
Method

Additional Names

Short Name
AGA Ser-Imp
Display Name
AGA gene (S) [Interp]
Consumer Name Alpha Get Info
AGA gene, Blood

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.74
Last Updated
Version 2.75
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen AGA:Impresión/interpretación del estudio:Punto temporal:Suero:Nom:
fr-FR French (France) AGA gène:Interprétation:Ponctuel:Sérum:Résultat nominal:
it-IT Italian (Italy) AGA, gene:Imp:Pt:Siero:Nom:
Synonyms: Gene AGA Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Siero
nl-NL Dutch (Netherlands) AGA-gen:interpretatie:moment:serum:nominaal:
Synonyms: AGA gen
tr-TR Turkish (Turkey) AGA geni:İzlnm:Zmlı:Ser:Snf:
zh-CN Chinese (China) AGA 基因:印象:时间点:血清:名义型:
Synonyms: 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 天冬氨酰葡糖胺酶;Aspartylglucosaminidase 时刻;随机;随意;瞬间 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=101537-9