GENE REFERENCE / HGNC:8654

PCCB

propionyl-CoA carboxylase subunit beta

protein-coding gene3q22.3Gene information

What does this gene do?

The PCCB gene provides instructions for making part of an enzyme called propionyl-CoA carboxylase, specifically, the beta subunit of this enzyme. Six beta subunits come together with six alpha subunits (produced from the PCCA gene) to form a functioning enzyme.

Propionyl-CoA carboxylase plays a role in the normal processing of proteins. It carries out a particular step in the breakdown of several protein building blocks (amino acids) called isoleucine, methionine, threonine, and valine. Propionyl-CoA carboxylase also helps break down certain types of lipids (fats) and cholesterol. First, several chemical reactions convert the amino acids, lipids, or cholesterol to a molecule called propionyl-CoA. Using the B vitamin biotin, propionyl-CoA carboxylase then converts propionyl-CoA to a molecule called methylmalonyl-CoA. Additional enzymes break down methylmalonyl-CoA into other molecules that are used for energy.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2007-07.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
propionic acidemiaMONDO:0011628 · Evaluated 2018-12-13	Autosomal recessive	DefinitiveAminoacidopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,417
Submissions for variants in or overlapping this gene: 2,293
Submissions explicitly reporting this gene: 2,243
Alleles reported pathogenic / likely pathogenic: 307
VariationIDs with uncertain significance: 403
VariationIDs with conflicting classifications: 59

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PCCB?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 307 alleles in PCCB reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PCCB.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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