Features include always present findings: Cutaneous photosensitivity and Freckling. 4 total HPO annotations.

ERCC8 encodes ERCC excision repair 8, CSA ubiquitin ligase complex subunit (396 aa). Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes. Highest expression in Cells Cultured fibroblasts (10.0 TPM) and Testis (9.5 TPM).

UV-sensitive syndrome 2 is associated with mutations in the ERCC8 gene on chromosome 5.

The ERCC8 protein participates in Recovery of RNA synthesis after TC-NER and ERCC8:DDB1:CUL4:RBX1:COP9 Signalosome pathways.

ERCC8 is classified as a druggable target (Transcription Factor category) with score 8.7.

Genetic testing for ERCC8 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features.

No clinical trials have been registered for UV-sensitive syndrome 2.

5 publications have been identified in PubMed for UV-sensitive syndrome 2. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Recent Publications

• Afonso-Reis R (2025). [PMID: 40536083](https://pubmed.ncbi.nlm.nih.gov/40536083/). *Aging Cell*. [Review / Meta-Analysis]

• Bie X (2025). [PMID: 41299792](https://pubmed.ncbi.nlm.nih.gov/41299792/). *Orphanet J Rare Dis*. [Case Report / Case Series]

• Nakazawa Y (2025). [PMID: 39704188](https://pubmed.ncbi.nlm.nih.gov/39704188/). *FEBS Lett*. [Review / Meta-Analysis]

• Bahap Y (2024). [PMID: 39119453](https://pubmed.ncbi.nlm.nih.gov/39119453/). *Mol Syndromol*. [Case Report / Case Series]

• Gonzalo-Hansen C (2024). [PMID: 39021334](https://pubmed.ncbi.nlm.nih.gov/39021334/). *Nucleic Acids Res*. [Basic Science / Preclinical]