GATM
Chr 15ARADglycine amidinotransferase
Also known as: AGAT, AT, CCDS3, FRTS, FRTS1, RFS
The encoded mitochondrial enzyme catalyzes the transfer of a guanido group from L-arginine to glycine to produce guanidinoacetic acid, the immediate precursor of creatine in creatine biosynthesis. Mutations cause cerebral creatine deficiency syndrome 3, characterized by cognitive disability, language impairment, and behavioral disorders, as well as Fanconi renotubular syndrome 1, with both autosomal recessive and autosomal dominant inheritance patterns reported. The pathogenicity results from deficient creatine synthesis leading to cerebral creatine deficiency and associated neurological dysfunction.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GATM · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools