MCCC2 wt Allele

Preferred Label : MCCC2 wt Allele;

NCIt synonyms : Methylcrotonyl-CoA Carboxylase Subunit 2 wt Allele; MCCB; Methylcrotonoyl-CoA Carboxylase 2 (Beta) Gene; Biotin Carboxylase Gene; Non-Biotin Containing Subunit of 3-Methylcrotonyl-CoA Carboxylase Gene; 3-Methylcrotonyl-CoA Carboxylase, Beta Gene; Methylcrotonoyl-CoA Carboxylase 2 Gene; 3-Methylcrotonyl-CoA Carboxylase Non-Biotin Containing Subunit Gene; MCCCbeta; Methylcrotonoyl-CoA Carboxylase Beta Gene; Methylcrotonoyl-Coenzyme A Carboxylase 2 (Beta) Gene; 3-Methylcrotonyl-CoA Carboxylase, Non-Biotin-Containing Subunit Gene;

NCIt definition : Human MCCC2 wild-type allele is located in the vicinity of 5q13.2 and is approximately 79 kb in length. This allele, which encodes methylcrotonoyl-CoA carboxylase beta chain, mitochondrial protein, plays a role in leucine and isovaleric acid catabolism. Mutation of the gene is associated with 3-methylcrotonylglycinuria caused by 3-methylcrotonyl-CoA carboxylase 2 deficiency.;

NCI Metathesaurus CUI : CL1798940;

GenBank Accession Number : AF310971;

Details

Origin ID

C190387;

UMLS CUI

C5780751;

OMIM relation
- 3-methylcrotonyl-coa carboxylase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- 3-methylcrotonyl-coa carboxylase 2 [OMIM gene]
- methylcrotonyl-CoA carboxylase subunit 2 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Valine, Leucine and Isoleucine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]

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