KLHL9
Chr 9kelch like family member 9
The protein functions as a substrate-specific adapter in a cullin 3-based E3 ubiquitin ligase complex that regulates mitotic progression and cytokinesis by controlling aurora B kinase localization and activity during cell division. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and neurological abnormalities. This gene is highly constrained against loss-of-function variants (pLI = 0.82, LOEUF = 0.41), indicating that haploinsufficiency is likely not tolerated in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 3 | 0 | 3 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 2 | 67 | 3 | 13 | 85 |
Likely Benign | 0 | 0 | 0 | 10 | 10 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 2 | 67 | 8 | 23 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KLHL9 · 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