MCCC1, Official Symbol MCCC1provided by HGNC Official Full Name methylcrotonyl-CoA carboxylase subunit 1provided by HGNC Primary source HGNC:HGNC:6936 See related Ensembl:ENSG00000078070 MIM:609010; AllianceGenome:HGNC:6936 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCCA; MCC-B; 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 See more Orthologs mouse all