UBE2L5
Chr 13ubiquitin conjugating enzyme E2 L5
Also known as: UBCH7N2, UBE2L5P
The protein catalyzes the covalent attachment of ubiquitin to other proteins and is involved in K11-linked ubiquitination and protein degradation processes in the nucleus. Mutations in UBE2L5 cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy. The disorder is characterized by severe developmental delay, epilepsy, and neurological regression affecting the central nervous system.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBE2L5 · 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.
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External Resources
Links to major genomics databases and tools