GAMT wt Allele

Preferred Label : GAMT wt Allele;

NCIt synonyms : HEL-S-20; Guanidinoacetate N-Methyltransferase wt Allele; Guanidinoacetate Methyltransferase Gene; TP53I2; PIG2;

NCIt definition : Human GAMT wild-type allele is located in the vicinity of 19p13.3 and is approximately 5 kb in length. This allele, which encodes guanidinoacetate N-methyltransferase protein, plays a role in the synthesis of creatine from arginine and glycine. Mutation of the gene is associated with cerebral creatine deficiency syndrome 2.;

NCI Metathesaurus CUI : CL1407488;

GenBank Accession Number : Z49878;

Details

Origin ID

C173491;

UMLS CUI

C5401275;

Automatic exact mappings (from CISMeF team)
- guanidinoacetate N-methyltransferase [ORDO Gene]
- guanidinoacetate N-methyltransferase [MeSH Descriptor]
OMIM relation
- Guanidinoacetate methyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- Arginine and Proline Metabolism Pathway [NCIt concept]
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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