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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]
GAMT (Guanidinoacetate N-Methyltransferase) is a Protein Coding gene. Diseases associated with GAMT include Cerebral Creatine Deficiency Syndrome 2 and Cerebral Creatine Deficiency Syndrome. Among its related pathways are Urea cycle and metabolism of amino groups and Glycine, serine and threonine metabolism. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and guanidinoacetate N-methyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008168 | methyltransferase activity | TAS | -- |
GO:0008757 | S-adenosylmethionine-dependent methyltransferase activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO:0030731 | guanidinoacetate N-methyltransferase activity | IMP,IBA | 8651275 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | CDK-mediated phosphorylation and removal of Cdc6 | ||
2 | Metabolism |
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3 | Arginine and proline metabolism | ||
4 | Glycine, serine and threonine metabolism | ||
5 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006600 | creatine metabolic process | TAS | -- |
GO:0006601 | creatine biosynthetic process | TAS,IEA | -- |
GO:0006936 | muscle contraction | TAS | 8547310 |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0009887 | animal organ morphogenesis | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanidine | Approved | Pharma | Target | 0 | ||
Creatine | Approved, Investigational | Nutra | Target, product of | 160 | ||
Glycocyamine | Experimental | Pharma | Target | 0 | ||
s-adenosylhomocysteine | Experimental | Pharma | Target | 0 | ||
Phosphocreatine | Nutra | Target, product of | 13 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | |||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | GAMT 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | GAMT 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Gamt 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Gamt 32 |
|
||
dog (Canis familiaris) |
Mammalia | GAMT 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | GAMT 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | GAMT 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | GAMT 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | GAMT 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | gamt 32 |
|
||
MGC75698 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.28782 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | gamt 33 32 |
|
OneToOne | |
Dr.28451 32 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3309 32 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RMT2 35 |
|
|
|
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7998 33 |
|
OneToOne | |
Cin.2015 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2015 32 |
|
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1048753323 | likely-benign, Cerebral creatine deficiency syndrome | 1,401,468(-) | G/A | coding_sequence_variant, synonymous_variant | |
rs104894694 | pathogenic, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] | 1,401,329(-) | T/G | coding_sequence_variant, missense_variant | |
rs1131691644 | pathogenic-likely-pathogenic, not provided | 1,398,983(-) | T/G | coding_sequence_variant, missense_variant | |
rs117884619 | benign, likely-benign, not specified, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome, History of neurodevelopmental disorder | 1,399,567(-) | C/T | coding_sequence_variant, synonymous_variant | |
rs121909272 | pathogenic, Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] | 1,398,980(-) | C/T | coding_sequence_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
cerebral creatine deficiency syndrome 2 |
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cerebral creatine deficiency syndrome |
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creatine deficiency syndromes |
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neurometabolic disease |
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cerebral creatine deficiency syndrome 3 |
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