LRPPRC
Chr 2leucine rich pentatricopeptide repeat containing
Also known as: CLONE-23970, GP130, LRP130, LSFC, MC4DN5
This protein localizes to mitochondria and is involved in transcriptional regulation of mitochondrial genes, though its precise function remains unclear. Mutations cause French-Canadian type Leigh syndrome (mitochondrial complex IV deficiency, nuclear type 5) through an autosomal recessive inheritance pattern. The pathogenic mechanism appears to be dominant negative.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Some data sources returned errors (1)
omim: TypeError: fetch failed
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
500 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 | 0 | 10 | 0 | 13 |
Likely Pathogenic | 83 | 3 | 5 | 0 | 91 |
VUS | 0 | 233 | 30 | 19 | 282 |
Likely Benign | 0 | 11 | 40 | 21 | 72 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 3 | |||
| Total | 86 | 247 | 86 | 40 | 462 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LRPPRC · 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