PMPCB
Chr 7ARpeptidase, mitochondrial processing subunit beta
Also known as: Beta-MPP, MAS1, MPP11, MPPB, MPPP52, P-52
The protein functions as the catalytic subunit of mitochondrial processing protease, which cleaves leader peptides from newly imported mitochondrial precursor proteins and is required for PINK1 turnover. Mutations cause multiple mitochondrial dysfunctions syndrome 6, inherited in an autosomal recessive pattern. The pathogenic mechanism appears to be dominant negative, where mutant proteins likely interfere with the essential mitochondrial protein processing function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
PMPCB · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools