MCCC1 Back

methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)

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NCBI Description of MCCC1

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.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


MCCC1 is highly significantly mutated in
MCCC1 is significantly mutated in
MCCC1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for MCCC1