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 Name
AGA gene
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