GAMT

GENE INFORMATION

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Gene name

GAMT (HGNC Symbol)

Synonyms

PIG2, TP53I2

Description

Guanidinoacetate N-methyltransferase (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]

Chromosome

19

Cytoband

p13.3

Chromosome location (bp)

1397091 - 1401569

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000130005 (version 75.37)

Entrez gene

2593

UniProt

Q14353 (UniProt - Evidence at protein level)

neXtProt

NX_Q14353

Antibodypedia

GAMT antibodies
 

PROTEIN VIEW

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GAMT-001
 
GAMT-002
 
GAMT-003
 
 
 
 
 

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)

GAMT-001 ENSP00000252288
ENST00000252288
Q14353
Show all »
Show » Show » 236 26.3 No 0
GAMT-002 ENSP00000403536
ENST00000447102
Q14353
Show all »
Show » Show » 269 29.4 No 0
GAMT-003 ENSP00000466341
ENST00000591788
Show » 106 11.9 No 0