• Source: KIAA1530

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






Further reading

Kata Kunci Pencarian:

• KIAA1530
• Chromosome 4
• UV-sensitive syndrome
• DNA-(apurinic or apyrimidinic site) lyase