MRPL44
Chr 2ARmitochondrial ribosomal protein L44
Also known as: COXPD16, L44MT, MRP-L44, mL44
MRPL44 encodes a protein component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins essential for oxidative phosphorylation within mitochondria. Mutations cause combined oxidative phosphorylation deficiency 16, inherited in an autosomal recessive pattern. The pathogenic mechanism involves impaired mitochondrial protein synthesis leading to defective respiratory chain function.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
201 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 | 1 | 0 | 30 | 0 | 31 |
Likely Pathogenic | 0 | 3 | 1 | 0 | 4 |
VUS | 1 | 79 | 6 | 0 | 86 |
Likely Benign | 0 | 4 | 16 | 35 | 55 |
Benign | 0 | 1 | 12 | 2 | 15 |
Conflicting | — | 3 | |||
| Total | 2 | 87 | 65 | 37 | 194 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MRPL44 · 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