Gene Symbol | UVSSA |
Entrez Gene ID | 57654 |
Full Name | UV stimulated scaffold protein A |
Synonyms | KIAA1530,UVSS3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | UV-sensitive syndrome 3, 614640 (3) |