ASB9
Chr Xankyrin repeat and SOCS box containing 9
ASB9 encodes a substrate-recognition component of an E3 ubiquitin ligase complex that targets creatine kinases for proteasomal degradation. Biallelic mutations cause autosomal recessive developmental and epileptic encephalopathy with developmental delay, seizures, and brain atrophy typically manifesting in infancy. The gene shows significant constraint against loss-of-function variants (LOEUF 0.58), suggesting intolerance to reduced protein levels.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASB9 · 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