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Article

Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.

The Journal of biological chemistry - 16 Oct 2009

Stucki Martin, Suormala Terttu, Fowler Brian, Valle David, Baumgartner Matthias R

Abstract excerpt

3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. MCC is a heteromeric mitochondrial enzyme composed of biotin-containing alpha (MCCA) and smaller beta (MCCB) subunits encoded by MCCA and MCCB, respectively. We report studies of the c.1054G-->A mutation in exon 11 of MCCB detected in the homozygous state in a patient with MCC deficiency. Sequence analysis...

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Identifiers

PMID: 19706617
DOI: 10.1074/jbc.M109.050674
PMCID: PMC2781441

Genes

MCC

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Source receipt: pubmed, retrieved 7 Sept 2026.

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