C16ORF96
Chr 16chromosome 16 open reading frame 96
This gene encodes a protein of unknown function that localizes to the mitochondria. Biallelic mutations cause a severe early-onset mitochondrial disorder characterized by developmental delay, seizures, hypotonia, and metabolic dysfunction. The disorder follows autosomal recessive inheritance and the gene shows minimal constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C16ORF96 · 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 →No open access results found
External Resources
Links to major genomics databases and tools