UBAC1
Chr 9UBA domain containing 1
UBAC1 encodes a non-catalytic adapter component of the KPC E3 ubiquitin ligase complex that promotes transfer of polyubiquitinated target proteins to the proteasome for degradation, regulating cell cycle progression and NF-kappa-B signaling. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, spasticity, and intellectual disability. The gene shows tolerance to loss-of-function variants (pLI 0.001), consistent with the recessive inheritance pattern observed in affected patients.
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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
UBAC1 · 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