PTCD3
Chr 2ARpentatricopeptide repeat domain 3
Also known as: COXPD51, MRP-S39, mS39
The PTCD3 protein binds mitochondrial RNA and is essential for mitochondrial translation, which produces key components of the electron transport chain. Mutations cause combined oxidative phosphorylation deficiency 51, inherited in an autosomal recessive pattern. This mitochondrial disorder affects multiple organ systems due to impaired cellular energy production.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
216 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 1 | 12 | 0 | 16 |
Likely Pathogenic | 3 | 0 | 4 | 0 | 7 |
VUS | 0 | 106 | 20 | 1 | 127 |
Likely Benign | 0 | 8 | 5 | 1 | 14 |
Benign | 0 | 1 | 1 | 1 | 3 |
Conflicting | — | 3 | |||
| Total | 6 | 116 | 42 | 3 | 170 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PTCD3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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