MRPS16
Chr 10ARmitochondrial ribosomal protein S16
Also known as: CGI-132, COXPD2, MRP-S16, RPMS16, S16mt, bS16m
The protein is a component of the mitochondrial ribosome's small 28S subunit and is essential for mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency, which presents with multisystem dysfunction affecting tissues with high energy demands through impaired mitochondrial respiratory chain function. The condition follows autosomal recessive inheritance and results from loss of protein function.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
MRPS16 · 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