MRPL3
Chr 3ARmitochondrial ribosomal protein L3
Also known as: COXPD9, MRL3, RPML3, uL3m
The protein is a component of the large 39S subunit of mitochondrial ribosomes and functions in mitochondrial protein synthesis. Biallelic mutations cause combined oxidative phosphorylation deficiency 9, inherited in an autosomal recessive pattern. The pathogenic mechanism involves impaired mitochondrial protein synthesis leading to defective oxidative phosphorylation.
Primary Disease Associations & Inheritance
Moderate evidence — consider for supplementary testing
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
MRPL3 · 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