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Gene: GATM (glycine amidinotransferase) Homo sapiens
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Symbol: GATM
Name: glycine amidinotransferase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGAT; AT; CCDS3; glycine amidinotransferase (L-arginine:glycine amidinotransferase); glycine amidinotransferase, mitochondrial; L-arginine:glycine amidinotransferase; testicular secretory protein Li 19; transamidinase
Orthologs:
Mus musculus (house mouse) : Gatm (glycine amidinotransferase (L-arginine:glycine amidinotransferase))  MGI  Alliance
Rattus norvegicus (Norway rat) : Gatm (glycine amidinotransferase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gatm (glycine amidinotransferase)
Pan paniscus (bonobo/pygmy chimpanzee) : GATM (glycine amidinotransferase)
Canis lupus familiaris (dog) : GATM (glycine amidinotransferase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gatm (glycine amidinotransferase)
Sus scrofa (pig) : GATM (glycine amidinotransferase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381545,361,124 - 45,402,317 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371545,653,322 - 45,670,980 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361543,440,614 - 43,458,272 (-)NCBINCBI36hg18NCBI36
Build 341543,440,613 - 43,457,998NCBI
Celera1522,544,733 - 22,562,401 (-)NCBI
Cytogenetic Map15q21.1NCBI
HuRef1522,477,507 - 22,495,086 (-)NCBIHuRef
CHM1_11545,771,808 - 45,813,500 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Comparative Map Data
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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on GATM
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731936
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.