PCCA
Chr 13ARpropionyl-CoA carboxylase subunit alpha
The protein is the alpha subunit of propionyl-CoA carboxylase, a mitochondrial enzyme that contains the biotin-binding region and is essential for catabolism of certain amino acids and odd-chain fatty acids. Mutations cause propionicacidemia, an autosomal recessive disorder characterized by accumulation of toxic metabolites leading to metabolic acidosis, developmental delay, and multisystem complications. The pathogenic mechanism involves enzyme deficiency resulting from loss of normal protein function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PCCA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools