UVSSA
Chr 4ARUV stimulated scaffold protein A
Also known as: KIAA1530, UVSS3
This protein serves as a key adapter in transcription-coupled nucleotide excision repair, facilitating removal of DNA lesions that block RNA polymerase II during transcription by promoting polymerase ubiquitination and recruiting repair machinery including the TFIIH complex. Mutations cause UV-sensitive syndrome 3, an autosomal recessive disorder characterized by abnormal sensitivity to ultraviolet radiation. The gene shows minimal constraint against loss-of-function variants (LOEUF 1.48), consistent with its recessive inheritance pattern.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UVSSA · 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