The MCCC2 gene is associated with autosomal recessive 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (MedGen UID: 347898).
Order this gene as a single gene test.
Invitae tests that include this gene:
An estimated 46% – 64% of 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency is caused by pathogenic variants identified in MCCC2 (PMID: 16010683, 16835865, 22642865).
MCCC2 is methylcrotonyl-CoA carboxylase 2 and it encodes the beta subunit of the 3-methylcrotonyl-CoA carboxylase (3MCC) enzyme. The smaller beta subunits are combined with the alpha subunits encoded by the MCCC1 gene. The alpha subunit contains a binding site for biotin which is required for the enzyme’s function. 3-MCCC is found in the mitochondria and it is necessary for the fourth step in the breakdown of leucine. It converts 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA (PMID: 22642865).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|