ERCC8 sirna
ERCC8 siRNA (Human)
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Mar 2014]
Uniprot Description
ERCC8: 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. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription- coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. Defects in ERCC8 are the cause of Cockayne syndrome type A (CSA). Cockayne syndrome is a rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. Defects in ERCC8 are the cause of UV-sensitive syndrome type 2 (UVSS2). An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA repair, damage; Helicase; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 5q12.1
Cellular Component: nucleoplasm; nucleotide-excision repair complex; protein complex; nuclear matrix; nucleus
Molecular Function: DNA-dependent ATPase activity; protein binding; DNA helicase activity; protein complex binding; ubiquitin-protein ligase activity
Biological Process: proteasomal ubiquitin-dependent protein catabolic process; protein autoubiquitination; positive regulation of DNA repair; protein polyubiquitination; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; response to oxidative stress; DNA repair; response to DNA damage stimulus; response to UV; response to X-ray
Disease: Cockayne Syndrome A; Uv-sensitive Syndrome 2