AGXT2 Chromosome 5
Alanine--glyoxylate aminotransferase 2
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What This Gene Does
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Transaminases
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000113492
Associated Conditions (2)
Beta-aminoisobutyric acid
urinary excretion of
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS37369 | Trait | Affects | Beta-aminoisobutyric acid, urinary excretion of, Beta-aminoisobutyric acid |