Full name: methylcrotonyl-CoA carboxylase subunit 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: MCC-B; MCCA; MCCCalpha

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, Jul 2008]

Expression: Ubiquitous expression in fat (RPKM 22.0), kidney (RPKM 20.5) and 25 other tissues

Gene size: 100979bp

Exon count: 23