KIAA1530

{{Short description|Protein-coding gene in the species Homo sapiens}}

KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.{{cite web | title = Entrez Gene: KIAA1530 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=57654 | accessdate = 2012-05-07 }} 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.{{cite journal |vauthors=Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA | title = UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair | journal = Nat. Genet. | volume = 44 | issue = 5 | pages = 598–602 |date=May 2012 | pmid = 22466611 | doi = 10.1038/ng.2230 | s2cid = 5486230 }}

Clinical relevance

Mutations in this gene cause UV-sensitive syndrome.{{cite journal |vauthors=Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K | title = Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair | journal = Nat. Genet. | volume = 44 | issue = 5 | pages = 593–7 |date=May 2012 | pmid = 22466612 | doi = 10.1038/ng.2228 | s2cid = 5094505 }}

KIAA1530

Clinical relevance

References

Further reading