UVSSA Chromosome 4
UV stimulated scaffold protein A
Upload your DNA to see your personal genotypes for variants in UVSSA.
What This Gene Does
The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Associated Conditions (1)
UV-sensitive syndrome 3
Key Variants
RS146406848
Conflicting classifications of pathogenicity
Health Risk
RS2109297204
Pathogenic
Health Risk
RS387907163
Pathogenic
UV-sensitive syndrome 3, UV-sensitive syndrome 3
Health Risk
RS387907164
Pathogenic
UV-sensitive syndrome 3, UV-sensitive syndrome 3
Health Risk
RS778975867
Pathogenic
UV-sensitive syndrome 3, UV-sensitive syndrome 3
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146406848 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2109297204 | Health Risk | Pathogenic | — |
| RS387907163 | Health Risk | Pathogenic | UV-sensitive syndrome 3, UV-sensitive syndrome 3 |
| RS387907164 | Health Risk | Pathogenic | UV-sensitive syndrome 3, UV-sensitive syndrome 3 |
| RS778975867 | Health Risk | Pathogenic | UV-sensitive syndrome 3, UV-sensitive syndrome 3 |