AMT wt Allele - CISMeF

Preferred Label : AMT wt Allele;

NCIt synonyms : GCVT; GCST; Aminomethyltransferase (Glycine Cleavage System Protein T) Gene; GCE; GCE2; Nonketotic Hyperglycinemia Gene; Oxalosis I Gene; Aminomethyltransferase wt Allele; NKH;

NCIt definition : Human AMT wild-type allele is located in the vicinity of 3p21.31 and is approximately 6 kb in length. This allele, which encodes aminomethyltransferase, mitochondrial protein, is involved in the degradation of glycine. Mutations in the gene are associated with glycine encephalopathy 2.;

GenBank Accession Number : D13811;

Détails

Origin ID

C214489;

OMIM relation
- Aminomethyltransferase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21.31 [NCIt concept]
gene_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Glyoxylate and Dicarboxylate Metabolism Pathway [NCIt concept]
- Lipoic Acid Metabolism Pathway [NCIt concept]
- One Carbon Pool by Folate Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Metabolic Process [NCIt concept]
- Folic Acid Metabolic Process [NCIt concept]
- Methylation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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