MRPL50
Chr 9mitochondrial ribosomal protein L50
Also known as: MRP-L50, mL50
The protein encodes a component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins essential for oxidative phosphorylation within mitochondria. Pathogenic mutations in MRPL50 cause autosomal recessive mitochondrial disease characterized by severe developmental delay, epilepsy, and brain abnormalities. The low constraint scores (pLI and LOEUF) suggest this gene tolerates loss-of-function variation, consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MRPL50 · 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