" /> MCCC1 wt Allele - CISMeF





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


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.