Gene: UVSSA

Alternate names for this Gene: KIAA1530|UVSS3

Gene Summary: The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: UV stimulated scaffold protein A

Type of Gene: protein-coding

rs3749456 in UVSSA gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

rs13118159 in UVSSA gene and Longevity PMID 20834067 2010 Joint influence of small-effect genetic variants on human longevity.

rs387907164 in UVSSA gene and UV-SENSITIVE SYNDROME 3 PMID 22466612 2012 Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

PMID 22466611 2012 UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

PMID 22466610 2012 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.