Entrez gene ID | | 56922 |
Official gene symbol | | MCCC1 |
Full name | | methylcrotonoyl-CoA carboxylase 1 (alpha) |
Aliases | | ,DKFZp686B20267,FLJ25545,MCC-B,MCCA, |
Gene summary | | This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3q27 |
Gene position | | 182817365 - 182733006 Map Viewer |
Gene orientation | | minus |
Gene size | | 84360 bp |
Gene sequence |
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OMIM ID | | 609010 |