AJM1
Chr 9apical junction component 1 homolog
Also known as: C9orf172, ajm-1
The protein is predicted to control adherens junction integrity and organize cell-cell junctions at apical plasma membranes and ciliary structures. This gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.29), suggesting that mutations likely cause severe developmental disorders, though specific associated diseases have not yet been established. Inheritance pattern has not been determined.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AJM1 · 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