MCCC1 (NM_020166) - methylcrotonoyl-CoA carboxylase 1
Methylcrotonoyl-Coa Carboxylase Subunit Alpha, Mitochondrial Isoform 1 Precursor
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Protein
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Protein 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].
- Strand
- -
- Chromosome
- 3
- Protein
- 725 residues
- All mutations
- 195
- PTM sites
- 18
- CDS
- 182,733,225 - 182,817,228
- Transcription
- 182,733,005 - 182,817,375
Usage summary
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PTM site
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Kinase, PTM site or protein
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