The PCCB gene is associated with autosomal recessive propionic acidemia (MedGen UID: 75694).
Order this gene as a single gene test.
Invitae tests that include this gene:
An estimated 50-65% of propionic academia cases are attributed to pathogenic variants in PCCB (PMID: 22593918).
The PCCB gene encodes the ÃŽÂ² subunit of the enzyme PropionylCoA carboxylase (PCC). PCC catalyzes the carboxylation of propionylCoA to methylmalonylCoA during the catabolism of the amino acids valine, isoleucine, threonine and methionine; odd chain fatty acids, cholesterol side chains, and thymine and uracil. PCC is a mitochondrial enzyme consisting of two non-identical subunits: ÃŽÂ± and ÃŽÂ² which are encoded by PCCA and PCCB, respectively. Impairment of either PCC subunit leads to reduced PCC activity and propionic acidemia (PMID: 22033733).
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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
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|