GATM - glycine amidinotransferase Gene

Homo sapiens

Also known as AT; AGAT; CCDS3; FRTS1

Gene ID: 2628 | Gene type: protein coding

About GATM

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,361,124-45,402,227 (from NCBI)

This gene has 19 transcripts (splice variants), 208 orthologues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 706.9), liver (RPKM 467.2) and 8 other tissues.

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]

GATM Products(2)

mRNA	Protein	Name
NM_001321015.2	NP_001307944.1	glycine amidinotransferase, mitochondrial isoform 2
NM_001482.3	NP_001473.1	glycine amidinotransferase, mitochondrial isoform 1 precursor

GATM Protein Structure

Amidinotransf

0
100
200
300
400
423 a.a.

Protein Preferred Names

Protein Names

glycine amidinotransferase, mitochondrial

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

Related Diseases

Diseases

Alias

Cerebral Creatine Deficiency Syndrome 3

Arginine:Glycine Amidinotransferase Deficiency	Agat Deficiency
Gatm Deficiency	Creatine Deficiency Syndrome Due To Agat Deficiency
L-Arginine:Glycine Amidinotransferase Deficiency	CCDS3
L-Arginine:Glycine Aminidotransferase Deficiency	Deficiency, Cerebral Creatine, Syndrome, Type 3

Fanconi Renotubular Syndrome 1

Renal Fanconi Syndrome	Adult Fanconi Syndrome
FRTS1	Fanconi Renotubular Syndrome
Frts	Rfs
Fanconi Syndrome Without Cystinosis	Luder-Sheldon Syndrome

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Speech And Communication Disorders

Language Disorder	Communication Disorder
Language Disorders	Communication Disorders
Speech Language Disorder	Speech-Language Disorder
Communication Impairment	Speech And Language Disorder

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
Intellectual Disability, X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 1

Aminoaciduria

Myopathy

Muscular Diseases

Myopathies

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy	Ornithine Aminotransferase Deficiency
HOGA	Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
Oat Deficiency	Okt Deficiency
Hyperornithinemia	Ornithine Keto Acid Aminotransferase Deficiency
Ornithine-Delta-Aminotransferase Deficiency	Gyrate Atrophy Of The Choroid And Retina
GACR	Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
Gyrate Atrophy Of The Retina	Ornithinemia With Gyrate Atrophy
Ornithinemia	Fuchs Atrophia Gyrata Chorioideae Et Retinae
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome	Gyrate Atrophy Of The Choroid And/Or Retina
Girate Atrophy Of The Retina	Ornithine Ketoacid Aminotransferase Deficiency
Atrophy, Gyrate, Of Choroid And Retina

Argininemia

Hyperargininemia	Arginase Deficiency
Arg1 Deficiency	Arginase-1 Deficiency
Deficiency Of Canavanase	Arginase Deficiency Disease
ARGIN

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Urea Cycle Disorder

Urea Cycle Disorders	Urea Cycle Disorders, Inborn
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Disorder Of Urea Cycle Metabolism
Urea Cycle Defect	Ucd
Disorder Of The Urea Cycle Metabolism	Disorder Of Urea Cycle
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Ammonia Metabolic Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05300	GATM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GATM	MGD	MGI:1914342
Macaca mulatta	GATM	VGNC	VGNC:72892
Felis catus	GATM	VGNC	VGNC:62480
Canis familiaris	GATM	VGNC	VGNC:41129
Bos taurus	GATM	VGNC	VGNC:29274
Rattus norvegicus	GATM	RGD	RGD:71090