Biology:KIAA1530

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
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

  1. ↑ "Entrez Gene: KIAA1530". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=57654. Retrieved 2012-05-07. 
  2. ↑ "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. 
  3. ↑ "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





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