UBA6
Chr 4ubiquitin like modifier activating enzyme 6
Also known as: E1-L2, MOP-4, UBE1L2
UBA6 encodes a ubiquitin-activating enzyme (E1) that initiates protein ubiquitination by adenylating and activating ubiquitin, and also activates the ubiquitin-like protein FAT10. Mutations cause autosomal recessive spastic paraplegia-81 and neurodevelopmental disorder with spastic paraplegia and microcephaly, presenting with developmental delay, intellectual disability, spastic paraplegia, and microcephaly. This gene is highly intolerant to loss-of-function variation (LOEUF 0.561) and is essential for embryonic development.
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
UBA6 · 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