GATM

GENE INFORMATION

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Gene name

GATM (HGNC Symbol)

Synonyms

AGAT

Description

Glycine amidinotransferase (L-arginine:glycine amidinotransferase) (HGNC Symbol)

Entrez 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 mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

Chromosome

15

Cytoband

q21.1

Chromosome location (bp)

45361124 - 45402327

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171766 (version 78.38)

Entrez gene

2628

UniProt

P50440 (UniProt - Evidence at protein level)

neXtProt

NX_P50440

Antibodypedia

GATM antibodies
 

PROTEIN VIEW

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GATM-001
 
GATM-002
 
GATM-004
 
GATM-006
 
GATM-007
 
GATM-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GATM-001 ENSP00000379895
ENST00000396659
P50440
Show all »
Show » Show » 423 48.5 No 0
GATM-002 ENSP00000454008
ENST00000558336
P50440
Show all »
Show » Show » 391 44.9 No 0
GATM-004 ENSP00000453781
ENST00000558163
H0YMX4
Show all »
Show » 167 19.5 No 0
GATM-006 ENSP00000453151
ENST00000558537
H0YLC6
Show all »
Show » 32 3.7 No 0
GATM-007 ENSP00000453087
ENST00000559885
Show » 15 1.7 No 0
GATM-008 ENSP00000453860
ENST00000561148
H0YN43
Show all »
Show » 31 3.6 No 0