C16ORF90
Chr 16chromosome 16 open reading frame 90
The protein encoded by this gene has an unknown function. Mutations cause autosomal recessive pontocerebellar hypoplasia type 6, characterized by progressive microcephaly, developmental delay, and cerebellar and pontine hypoplasia with onset in infancy. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.
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
C16ORF90 · 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