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GTR Home > Conditions/Phenotypes > UV-sensitive syndrome 3

Summary

UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630). [from OMIM]

Available tests

6 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: KIAA1530, UVSS3, UVSSA
    Summary: UV stimulated scaffold protein A

Clinical features

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