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KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.[5] 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.[6]
Clinical relevance
Mutations in this gene cause UV-sensitive syndrome.[7]
^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.
