AOPEP
Chr 9ARaminopeptidase O (putative)
Also known as: AP-O, APO, C90RF3, C9orf3, DYT31, ONPEP
The protein is an aminopeptidase that cleaves amino acid residues from the N-terminus of peptides and proteins. Mutations cause dystonia 31, an autosomal recessive movement disorder. The gene shows minimal constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AOPEP · 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