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MCCC1 methylcrotonoyl-CoA carboxylase 1

Also known as: MCCA; MCC-B

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]

Associated conditions

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DescriptionTests
3 Methylcrotonyl-CoA carboxylase 1 deficiency
MedGen: CN028786OMIM: 210200GeneReviews: Not available
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Genomic context

Location:
3q27.1
Sequence:
Chromosome: 3; NC_000003.12 (183015218..183099587, complement)
Total number of exons:
22

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