Version 2.78

Description

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

Basic Part Properties

Part Display Name
AGA gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-01-05
Construct for LOINC Short Name
AGA

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP188488-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) AGA 基因
Synonyms: 天冬氨酰葡糖胺酶;Aspartylglucosaminidase
es-ES Spanish (Spain) Gen AGA
it-IT Italian (Italy) AGA, gene
Synonyms: Gene AGA
tr-TR Turkish (Turkey) AGA geni
nl-NL Dutch (Netherlands) AGA-gen
Synonyms: AGA gen