MCCC1 wt Allele

Preferred Label : MCCC1 wt Allele;

NCIt synonyms : Methylcrotonoyl-CoA Carboxylase, Alpha Gene; Methylcrotonoyl-CoA Carboxylase 1 (Alpha) Gene; MCCA; Methylcrotonoyl-CoA Carboxylase Alpha Gene; Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha) Gene; MCC-B; Methylcrotonoyl-CoA Carboxylase 1 Gene; 3-Methylcrotonyl-CoA Carboxylase Biotin Containing Subunit Gene; MCCCalpha; Methylcrotonyl-CoA Carboxylase Subunit 1 wt Allele; 3-Methylcrotonyl-CoA Carboxylase, Biotin-Containing Subunit Gene;

NCIt definition : Human MCCC1 wild-type allele is located in the vicinity of 3q27.1 and is approximately 101 kb in length. This allele, which encodes methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial protein, is involved in biotin binding and the metabolism of branched-chain amino acids. Mutation of the gene is associated with 3-methylcrotonylglycinuria caused by 3-methylcrotonyl-CoA carboxylase 1 deficiency.;

NCI Metathesaurus CUI : CL1798938;

GenBank Accession Number : AF310972;

Détails

Origin ID

C190384;

UMLS CUI

C5781205;

OMIM relation
- 3-methylcrotonyl-coa carboxylase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- 3-methylcrotonyl-coa carboxylase 1 [OMIM gene]
- methylcrotonyl-CoA carboxylase subunit 1 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q27.1 [NCIt concept]
gene_is_element_in_pathway
- Valine, Leucine and Isoleucine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Metal Ion Binding [NCIt concept]

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