OLFM1
Chr 9olfactomedin 1
Also known as: AMY, NOE1, NOELIN1, OlfA
The protein inhibits interactions between RTN4R and LINGO1 to regulate axonal growth in the embryonic and adult central nervous system and may contribute to neural crest cell production and olfactory responses. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.22), indicating intolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OLFM1 · 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