LP208421-0
AGL gene
Active
Description
The AGL gene (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) [HGNC Gene ID:321] is located on chromosome 1p21. This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:178] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- AGL gene
- Part Display Name
- AGL gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- AGL
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | AGL 基因 Synonyms: 淀粉-α-1, 6-葡糖苷酶, 4-α-葡聚糖转移酶; |
| es-ES | Spanish (Spain) | GenAGL |
| it-IT | Italian (Italy) | gene AGL |
| nl-NL | Dutch (Netherlands) | AGL-gen Synonyms: AGL gen |
| fr-FR | French (France) | AGL gène |
| pl-PL | Polish (Poland) | AGL gen Synonyms: Gen AGL |
| el-GR | Greek (Greece) | Γονίδιο AGL Synonyms: Γονίδιο AGL |
LOINC Copyright
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