GATM wt Allele

Preferred Label : GATM wt Allele;

NCIt synonyms : AT; AGAT; Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase) wt Allele; CCDS3;

NCIt definition : Human GATM wild-type allele is located in the vicinity of 15q21.1 and is approximately 41 kb in length. This allele, which encodes glycine amidinotransferase, mitochondrial protein, is involved in the synthesis of creatine from L-arginine and glycine.;

NCIt note : A fusion involving the GATM gene and the BRAF gene may be associated with pancreatic acinar cell carcinoma. (COSMIC);

GenBank Accession Number : S68805;

Details

Origin ID

C122897;

UMLS CUI

C4049625;

Automatic exact mappings (from CISMeF team)
- Cerebral creatine deficiency syndrome 3 [OMIM Phenotype]
- L-arginine:glycine amidinotransferase [OMIM gene]
- glycine amidinotransferase [ORDO Gene]
OMIM relation
- L-arginine:glycine amidinotransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q21.1 [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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients