LP188488-3
AGA gene
Active
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
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- 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; |
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 |
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