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MGP001154

Record overview

MGPD IDMGP001154
Gene ID2593
SpeciesHomo sapiens (Human)
Gene Nameguanidinoacetate N-methyltransferase
Gene Symbol GAMT
SynonymsPIG2; CCDS2; TP53I2; HEL-S-20;
Alternate namesguanidinoacetate N-methyltransferase; epididymis secretory protein Li 20;
Chromosome19
Map Location19p13.3
EC Number2.1.1.2;
SummaryThe 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]
OrthologsView orthologs and multiple alignments for GAMT

Proteins

guanidinoacetate N-methyltransferase isoform a
Refseq ID:NP_000147
Protein GI:4503909
UniProt ID:Q14353
mRNA ID:NM_000156
Length:236
RefSeq Status:
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLR
DWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEA
GFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG
 
guanidinoacetate N-methyltransferase isoform b
Refseq ID:NP_620279
Protein GI:20336212
UniProt ID:Q14353
mRNA ID:NM_138924
Length:269
RefSeq Status:
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLR
DWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGS
PGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIKVLCLAQWLPGAVAQVYNPSTVEGRGGQIA
 
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