Entrez 57654 | Ensembl ENSG00000163945 | |
External IDs MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA |
KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA. 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.
Clinical relevance
Mutations in this gene cause UV-sensitive syndrome.
References
KIAA1530 Wikipedia(Text) CC BY-SA