GATM (gene)

GATM
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1JDW, 1JDX, 2JDW, 2JDX, 3JDW, 4JDW, 5JDW, 6JDW, 7JDW, 8JDW, 9JDW
Identifiers
Aliases	GATM, AGAT, AT, CCDS3, glycine amidinotransferase, FRTS1
External IDs	OMIM: 602360; MGI: 1914342; HomoloGene: 1136; GeneCards: GATM; OMA:GATM - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	45,402,327 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	122,441,784 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; right lobe of liver; ; jejunal mucosa; ; corpus callosum; ; renal medulla; ; kidney tubule; ; trigeminal ganglion; ; olfactory bulb; ; spinal cord; ; human kidney;
	Top expressed in
	right kidney; ; human kidney; ; thoracic diaphragm; ; primary visual cortex; ; striatum of neuraxis; ; hippocampus proper; ; pancreas; ; cerebellar cortex; ; superior frontal gyrus; ; olfactory bulb;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; glycine amidinotransferase activity; amidinotransferase activity;
Cellular component	membrane; cytoplasm; mitochondrial inner membrane; extracellular exosome; mitochondrial intermembrane space; mitochondrion;
Biological process	creatine biosynthetic process; creatine metabolic process; multicellular organism development; learning or memory; muscle atrophy; positive regulation of cold-induced thermogenesis;
	Sources:Amigo / QuickGO
Orthologs
	2628
	67092
	ENSG00000171766
	ENSMUSG00000027199
	P50440
	Q9D964
	NM_001482; NM_001321015
	NM_025961
	NP_001307944; NP_001473
	NP_080237
	Wikidata
View/Edit Human	View/Edit Mouse

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.

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 mental retardation, language impairment, and behavioral disorders.