UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion, characterized by photosensitivity and solar lentigines. Recent research identified that mutations of the KIAA1530 (UVSSA) gene as cause for the development of UV-sensitive syndrome. Furthermore, this protein was identified as a new player in the Transcription-coupled repair (TC-NER).
- Solar urticaria
- List of cutaneous conditions
- Cockayne syndrome
- Xeroderma pigmentosum
- Nucleotide excision repair
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- Schwertman P., Marteijn JA.; Lagarou A; Dekkers DH; Raams A; van der Hoek AC; Laffeber C; Hoeijmakers JH; Demmers JA; Fousteri M; Vermeulen W (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. PMID 22466611.