GATM glycine amidinotransferase
Gene ID: 2628, updated on 3-Apr-2024Gene type: protein coding
Also known as: AT; RFS; AGAT; FRTS; CCDS3; FRTS1
- See all available tests in GTR for this gene
- Go to complete Gene record for GATM
- Go to Variation Viewer for GATM variants
Summary
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arginine:glycine amidinotransferase deficiency | See labs |
| Fanconi renotubular syndrome 1 | See labs |
| Genetic determinants influencing human serum metabolome among African Americans. GeneReviews: Not available | |
| Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium. GeneReviews: Not available | |
| Multiple loci associated with indices of renal function and chronic kidney disease. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 15q21.1
- Sequence:
- Chromosome: 15; NC_000015.10 (45361124..45402227, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GATM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GATM @ LOVD
- 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
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