AGXT Chromosome 2
Alanine--glyoxylate aminotransferase
Upload your DNA to see your personal genotypes for variants in AGXT.
What This Gene Does
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]
Gene Info
Gene Group
Transaminases
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000172482
Associated Conditions (18)
Primary hyperoxaluria
type I
Inborn genetic diseases
AGXT-related disorder
Alanine glyoxylate aminotransferase deficiency
Nephrocalcinosis
Nephrolithiasis
See cases
Cardiac arrhythmia
Nephrotic syndrome
Hyperoxaluria
Abnormality of metabolism/homeostasis
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-negative
due to adenosine deaminase deficiency
Key Variants
RS1017611176
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Inborn genetic diseases
Health Risk
RS140992177
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, AGXT-related disorder
Health Risk
RS142969817
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Inborn genetic diseases
Health Risk
RS143488099
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Primary hyperoxaluria
Health Risk
RS144007007
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Inborn genetic diseases
Health Risk
RS146525143
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Primary hyperoxaluria
Health Risk
RS151185188
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Alanine glyoxylate aminotransferase deficiency
Health Risk
RS180177165
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Primary hyperoxaluria
Health Risk
RS180177180
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Primary hyperoxaluria
Health Risk
RS180177238
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Primary hyperoxaluria
Health Risk
RS180177260
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Inborn genetic diseases
Health Risk
RS180177291
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type I, Primary hyperoxaluria
Health Risk
All Variants (303)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS180177294 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS180177295 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS180177296 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS180177299 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS180177300 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS180177301 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS180177303 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2106427278 | Health Risk | Pathogenic | — |
| RS2106428645 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2106429906 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2106430885 | Health Risk | Pathogenic | — |
| RS2106430919 | Health Risk | Pathogenic | — |
| RS2528738902 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528738944 | Health Risk | Pathogenic | — |
| RS2528738978 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528739939 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528740066 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528740117 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528740269 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528740471 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528742947 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528744495 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528744521 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528744782 | Health Risk | Pathogenic | — |
| RS2528749626 | Health Risk | Pathogenic | — |
| RS2528749754 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528749940 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528753115 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528753200 | Health Risk | Pathogenic | — |
| RS2528753308 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528753326 | Health Risk | Pathogenic | — |
| RS2528753335 | Health Risk | Pathogenic | — |
| RS2528755914 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528756014 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528756084 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528756219 | Health Risk | Pathogenic | — |
| RS2528756250 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528758415 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528762183 | Health Risk | Pathogenic | — |
| RS2528764075 | Health Risk | Pathogenic | — |
| RS2528764137 | Health Risk | Pathogenic | — |
| RS2528764378 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528766265 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528766485 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS2528766539 | Health Risk | Pathogenic | — |
| RS536205988 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS750264224 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS767586362 | Health Risk | Pathogenic | — |
| RS786204545 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |
| RS796052059 | Health Risk | Pathogenic | Primary hyperoxaluria, type I, Primary hyperoxaluria |