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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MCCC1-20-RE | 20 (40 μL) | 200 μL |  |
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| MCCC1-20-OR | 20 (40 μL) | 200 μL |  |
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| MCCC1-20-GO | 20 (40 μL) | 200 μL |  |
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| MCCC1-20-GR | 20 (40 μL) | 200 μL |  |
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| MCCC1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : MCCC1
Gene Name : Methylcrotonoyl-CoA carboxylase 1
Chromosome : CHR 3: 183,099,586-183,015,217
Locus : 3q27.1
Alt. Genes : LRPPRC
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