KIAA1530 explained

KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.^[1] 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.^[2]

Clinical relevance

Mutations in this gene cause UV-sensitive syndrome.^[3]

Further reading

• Yashin AI, Wu D, Arbeev KG, Ukraintseva SV . Joint influence of small-effect genetic variants on human longevity . Aging . 2 . 9 . 612–20 . September 2010 . 20834067 . 2984609 . 10.18632/aging.100191.

Notes and References

1. Web site: Entrez Gene: KIAA1530 . 2012-05-07 .
2. Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA . UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair . Nat. Genet. . 44 . 5 . 598–602 . May 2012 . 22466611 . 10.1038/ng.2230 . 5486230 .
3. Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K . Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair . Nat. Genet. . 44 . 5 . 593–7 . May 2012 . 22466612 . 10.1038/ng.2228 . 5094505 .