MRPL41
Chr 9mitochondrial ribosomal protein L41
Also known as: BMRP, MRP-L27, MRPL27, PIG3, RPML27, mL41
This protein is a component of the mitochondrial ribosome large subunit and is involved in mitochondrial protein synthesis, while also playing roles in apoptosis and cell cycle regulation by enhancing p53 stability and promoting cell cycle arrest. Mutations in MRPL41 cause autosomal recessive mitochondrial disease with features including developmental delay, seizures, and metabolic dysfunction. The gene shows moderate constraint against loss-of-function variants, consistent with its essential role in mitochondrial function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MRPL41 · 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