UV-stimulated scaffold protein A is a protein that in humans that is encoded by the UVSSA gene (previously KIAA1530). This protein is involved in DNA repair in response to UV radiation damage. In particular, it interacts with nucleotide excision repair proteins (specifically TC-NER subunits) along with RNA polymerase II subunits that have stalled.
Mutations in this gene have been identified to cause the UV-sensitive syndrome and recently, its important role in Transcription-coupled repair has been identified.
Clinical relevance
Mutations in this gene cause UV-sensitive syndrome.
↑Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA (May 2012). "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair". Nat. Genet. 44 (5): 598–602. doi:10.1038/ng.2230. PMID22466611. S2CID5486230.
↑Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K (May 2012). "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair". Nat. Genet. 44 (5): 593–7. doi:10.1038/ng.2228. PMID22466612. S2CID5094505.
