NP_000147.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
29,377 Da
NCBI Official Full Name
guanidinoacetate N-methyltransferase isoform a
NCBI Official Synonym Full Names
guanidinoacetate N-methyltransferase
NCBI Protein Information
guanidinoacetate N-methyltransferase
UniProt Protein Name
Guanidinoacetate N-methyltransferase
UniProt Entry Name
GAMT_HUMAN
NCBI Summary for GAMT
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]
UniProt Comments for GAMT
GAMT: Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency). GAMT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - glycine, serine and threonine; Contractile; EC 2.1.1.2; Methyltransferase
Chromosomal Location of Human Ortholog: 19p13.3
Cellular Component: cytoplasm; cytosol; nucleus
Molecular Function: guanidinoacetate N-methyltransferase activity; methyltransferase activity
Biological Process: creatine biosynthetic process; creatine metabolic process; muscle contraction; S-adenosylhomocysteine metabolic process; S-adenosylmethionine metabolic process
Disease: Cerebral Creatine Deficiency Syndrome 2
Research Articles on GAMT
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Products associated with GAMT recombinant protein
Pathways associated with GAMT recombinant protein
Diseases associated with GAMT recombinant protein
Organs/Tissues associated with GAMT recombinant protein
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