KIAA1530 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans that is encoded by the KIAA1530
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
, 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
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