UVSSA

Chr 4

UV stimulated scaffold protein A

Also known as: KIAA1530, UVSS3

NCBI Gene: 57654 ENSG00000163945 UniProt: Q2YD98

This protein serves as a key adapter in transcription-coupled nucleotide excision repair, facilitating removal of DNA lesions that block RNA polymerase II during transcription by promoting polymerase ubiquitination and recruiting repair machinery including the TFIIH complex. Mutations cause UV-sensitive syndrome 3, an autosomal recessive disorder characterized by abnormal sensitivity to ultraviolet radiation. The gene shows minimal constraint against loss-of-function variants (LOEUF 1.48), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtUV-sensitive syndrome 3

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.48

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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