Contributes to methylcrotonoyl-CoA carboxylase activity. Predicted to be involved in L-leucine catabolic process. Located in mitochondrial matrix. Part of methylcrotonoyl-CoA carboxylase complex. Implicated in 3-methylcrotonyl-CoA carboxylase 1 deficiency.
RGD Description
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]