Synonyms:ENTREZ:56922, HGNC:6936, MCC-B, MCCA, MCCC1, MCCCalpha, MIM:609010, NM_001293273, NM_001363880, NM_020166, NP_001280202, NP_001350809, NP_064551, NR_120639, NR_120640, XM_011512992, XP_011511294, XR_001740207, XR_001740208, XR_001740209, XR_001740210, XR_002959553, XR_002959554, XR_241502, methylcrotonyl-CoA carboxylase subunit 1
Omim:OMIM:609010
Id:ENSG00000078070
Hgnc:HGNC:6936
Description:methylcrotonyl-CoA carboxylase subunit 1
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]