PCCB

Chr 3

propionyl-CoA carboxylase subunit beta

NCBI Gene: 5096ENSG00000114054UniProt: P05166

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPropionic acidemia type II

Clinical highlights

Gene-disease validity (ClinGen)
propionic acidemia · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — PCCB
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.00
OE 0.60 (0.41–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.87Z-score
OE missense 1.14 (1.04–1.24)
353 obs / 310.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.60 (0.41–0.89)
0≤0.351.4
Missense OE?1.14 (1.04–1.24)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 17 / 28.5Missense obs/exp: 353 / 310.0Syn Z: -1.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PCCB · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients