Gene Symbol | MCCC1 |
Entrez Gene ID | 56922 |
Full Name | methylcrotonoyl-CoA carboxylase 1 |
Synonyms | MCC-B,MCCA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) |