Biology:KIAA1530
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 Generic protein structure example |
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]
References
- ↑ "Entrez Gene: KIAA1530". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=57654. Retrieved 2012-05-07.
- ↑ "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair". Nat. Genet. 44 (5): 598–602. May 2012. doi:10.1038/ng.2230. PMID 22466611.
- ↑ "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair". Nat. Genet. 44 (5): 593–7. May 2012. doi:10.1038/ng.2228. PMID 22466612.
Further reading
- "Joint influence of small-effect genetic variants on human longevity". Aging 2 (9): 612–20. September 2010. doi:10.18632/aging.100191. PMID 20834067.
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