BCAT1 wt Allele

Preferred Label : BCAT1 wt Allele;

NCIt synonyms : Branched Chain Amino Acid Transaminase 1 wt Allele; MECA39; BCT1; PNAS121; PP18; ECA39; Branched Chain Aminotransferase 1, Cytosolic Gene;

NCIt definition : Human BCAT1 wild-type allele is located in the vicinity of 12p12.1 and is approximately 139 kb in length. This allele, which encodes branched-chain-amino-acid aminotransferase, cytosolic protein, plays a role in the catabolism of branched-chain amino acids. Mutation of the gene is associated with hypervalinemia and hyperleucine-isoleucinemia.;

NCI Metathesaurus CUI : CL524975;

GenBank Accession Number : NM_005504;

Details

Origin ID

C137955;

UMLS CUI

C4521345;

Automatic exact mappings (from CISMeF team)
- Branched-chain aminotransferase 1 [OMIM gene]
OMIM relation
- Branched-chain aminotransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p12.1 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
- Pantothenate and CoA Biosynthesis Pathway [NCIt concept]
- Valine, Leucine and Isoleucine Biosynthesis Pathway [NCIt concept]
- Valine, Leucine and Isoleucine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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