C1ORF87
Chr 1chromosome 1 open reading frame 87
Also known as: CREF
The protein encoded by this gene has an unknown function. Mutations cause autosomal recessive spastic paraplegia with intellectual disability, characterized by progressive spasticity of the lower limbs and cognitive impairment typically manifesting in early childhood. The gene shows very low constraint against loss-of-function variants, suggesting tolerance to such mutations in the general population.
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
C1ORF87 · 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