KIAA1530
UVSSA | |||||||||||||||||
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Identifiers | |||||||||||||||||
Aliases | UVSSA, KIAA1530, UVSS3, UV stimulated scaffold protein A | ||||||||||||||||
External IDs | MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA | ||||||||||||||||
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Orthologs | |||||||||||||||||
Species | Human | Mouse | |||||||||||||||
Entrez | |||||||||||||||||
Ensembl | |||||||||||||||||
UniProt | |||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||
RefSeq (protein) | |||||||||||||||||
Location (UCSC) | Chr 4: 1.35 – 1.39 Mb | Chr 5: 33.38 – 33.42 Mb | |||||||||||||||
PubMed search | [1] | [2] | |||||||||||||||
Wikidata |
View/Edit Human | View/Edit Mouse |
KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.[3] 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.[4]
Clinical relevance
Mutations in this gene cause UV-sensitive syndrome.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: KIAA1530". Retrieved 2012-05-07.
- ↑ Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA (May 2012). "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair". Nat. Genet. 44 (5): 598–602. doi:10.1038/ng.2230. PMID 22466611.
- ↑ Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K (May 2012). "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair". Nat. Genet. 44 (5): 593–7. doi:10.1038/ng.2228. PMID 22466612.
Further reading
- Yashin AI, Wu D, Arbeev KG, Ukraintseva SV (September 2010). "Joint influence of small-effect genetic variants on human longevity". Aging (Albany NY). 2 (9): 612–20. PMC 2984609. PMID 20834067.
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