LP136154-4
AGXT gene
Active
Descriptions
The AGXT (alanine-glyoxylate aminotransferase) gene provides instructions for making a liver-specific peroxisomal enzyme, alanine-glyoxylate aminotransferase (AGT). Mutations in the AGXT gene lead to deficient AGT enzyme activity and ultimately primary hyperoxaluira type 1 (PH1), an autosomal recessive disorder in which excessive oxalates are formed by the liver and excreted by the kidneys. Clinical symptoms included increased urinary oxalate, glycolate, and glycerate excreation, which lead to a wide spectrum of diseases ranging from renal failure in infancy to renal stones in late adulthood. Source: Regenstrief LOINC
The AGXT gene (alanine-glyoxylate aminotransferase) [HGNC Gene ID:341] is located on chromosome 2q37.3. This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] [NCBI Gene ID:189] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- AGXT gene
- Part Display Name
- AGXT gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2011-11-01
- Construct for LOINC Short Name
- AGXT gene
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | AGXT 基因 Synonyms: AGXT; |
tr-TR | Turkish (Turkey) | AGXT geni |
it-IT | Italian (Italy) | AGXT, gene Synonyms: Gene AGXT |
ru-RU | Russian (Russian Federation) | AGXT ген |
es-ES | Spanish (Spain) | Gen AGXT |
nl-NL | Dutch (Netherlands) | AGXT-gen Synonyms: AGXT gen |
el-GR | Greek (Greece) | Γονίδιο AGXT Synonyms: Γονίδιο AGXT |
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