| 2659 | Gamt | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity; identical protein binding; S-adenosylmethionine-dependent methyltransferase activity; INVOLVED IN creatine biosynthetic process; embryonic liver development; S-adenosylhomocysteine metabolic process; PARTICIPATES IN creat ine metabolic pathway; homocysteine metabolic pathway; methionine cycle/metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog); INTERACTS WITH (+)-schisandrin B; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine | 7 | 10099267 | 10102083 | Rat | 216 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 10618 | Gamt | guanidinoacetate methyltransferase | Predicted to enable guanidinoacetate N-methyltransferase activity and identical protein binding activity. Acts upstream of or within several processes, including creatine biosynthetic process; regulation of growth; and spermatogenesis. Predicted to be located in cytosol. Predicted to be active in cy toplasm and nucleus. Is expressed in brain; foregut-midgut junction; future brain; lens; and liver. Used to study guanidinoacetate methyltransferase deficiency. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and guanidinoacetate methyltransferase deficiency. Orthologous to human GAMT (guanidinoacetate N-methyltransferase). [provided by Alliance of Genome Resources, Jul 2025] | 10 | 80093985 | 80096846 | Mouse | 243 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 732024 | GAMT | guanidinoacetate N-methyltransferase | 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 guanidin oacetate 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] | 19 | 1397026 | 1401542 | Human | 431 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 9006080 | Gamt | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog) | NW_004955495 | 6536541 | 6539424 | Chinchilla | 42 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12283206 | GAMT | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog) | 20 | 57440698 | 57442588 | Dog | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12572995 | Gamt | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) | NW_004936588 | 721436 | 724475 | Squirrel | 57 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626096278 | Gamt | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog) | | | | Black Rat | 42 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18933683 | Gamt | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) | | | | Naked Mole-Rat | 57 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155243194 | gamt | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 11702389 | GAMT | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) | | | | Bonobo | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18376282 | GAMT | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) | | | | Green Monkey | 57 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14094719 | GAMT | guanidinoacetate N-methyltransferase | ENCODES a protein that exhibits guanidinoacetate N-methyltransferase activity (ortholog); identical protein binding (ortholog); S-adenosylmethionine-dependent methyltransferase activity (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); creatine biosynthetic process (ortholog); embryonic liver development (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; creatine metabolic pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cerebral creatine deficiency syndrome (ortholog); epilepsy (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 57 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155240929 | gamt.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155243195 | gamt.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 16562847 | AC073476.1 | guanidinoacetate N-methyltransferase (GAMT) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 2293179 | GAMTP1 | guanidinoacetate N-methyltransferase pseudogene 1 | | 2 | 231810074 | 231810400 | Human | | symbol , GTEx , COSMIC , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 3277534 | GAMTP2 | guanidinoacetate N-methyltransferase pseudogene 2 | | 13 | 34574202 | 34574749 | Human | | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |