Gene: GATM

Alternate names for this Gene: AGAT|AT|CCDS3|FRTS1

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.1

Description of this Gene: glycine amidinotransferase

Type of Gene: protein-coding

rs1244824806 in GATM gene and Arginine:Glycine Amidinotransferase Deficiency PMID 23770102 2013 Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.

PMID 27233232 2016 Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

PMID 23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

PMID 20682460 2011 l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

PMID 22386973 2012 Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

PMID 11555793 2001 Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

PMID 26490222 2015 Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

rs6145546 in GATM gene and Diabetes PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs6145546 in GATM gene and Diabetes Mellitus PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1145077 in GATM gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1145077 in GATM gene and Kidney Failure, Chronic PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs2433610 in GATM gene and Serum albumin measurement PMID 24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.