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ERCC8
Anti-ERCC8 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Oligodendrocytes, Excitatory neurons, Inhibitory neurons, Early spermatids, Oligodendrocyte precursor cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6 and KIAA1530/UVSSA. Interacts with a subunit of RNA polymerase II TFIIH. Interacts directly with DDB1 (PubMed:22118460).
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