C1ORF122
Chr 1chromosome 1 open reading frame 122
Also known as: ALAESM
The protein encoded by this gene has unknown function but is thought to be involved in cellular processes. Mutations cause autosomal recessive spastic paraplegia, characterized by progressive lower limb spasticity and weakness typically beginning in childhood or adolescence. This gene shows relatively low constraint against loss-of-function variants, which is consistent with its recessive inheritance pattern.
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
C1ORF122 · 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 →External Resources
Links to major genomics databases and tools