AGXT alanine--glyoxylate aminotransferase
Gene ID: 189, updated on 11-Apr-2024Gene type: protein coding
Also known as: AGT; PH1; SPT; AGT1; SPAT; TLH6; AGXT1; Ser-PyrAT
- See all available tests in GTR for this gene
- Go to complete Gene record for AGXT
- Go to Variation Viewer for AGXT variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Primary hyperoxaluria, type I | See labs |
Genomic context
- Location:
- 2q37.3
- Sequence:
- Chromosome: 2; NC_000002.12 (240868824..240880500)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AGXT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AGXT database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.