Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 8; CSA

For Research Use Only. Not for use in diagnostic procedures.

Monoclonal

IgG1

235C3a

Mouse

100 ug/ml (1.0 ml) (lot specific)

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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). The CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [NCBI Entrez Gene Summary]

Dot Blot (DB)

Western blot analysis of immunized recombinant protein, using anti-ERCC8 monoclonal antibody.

Arrow indicates the region of immunized recombinant protein carrying 50-200 amino acids.

23,182 Da

excision repair cross-complementation group 8

DNA excision repair protein ERCC-8; Cockayne syndrome WD-repeat protein CSA; cockayne syndrome WD repeat protein CSA; excision repair cross-complementing rodent repair deficiency, complementation group 8

DNA excision repair protein ERCC-8

ERCC8_HUMAN

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]

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: Ubiquitin conjugating system; Helicase; DNA repair, damage

Chromosomal Location of Human Ortholog: 5q12.1

Cellular Component: nucleoplasm; nucleotide-excision repair complex; nuclear matrix; protein complex; nucleus

Molecular Function: DNA-dependent ATPase activity; DNA helicase activity; protein binding; protein complex binding; ubiquitin-protein ligase activity

Biological Process: proteasomal ubiquitin-dependent protein catabolic process; protein autoubiquitination; protein polyubiquitination; positive regulation of DNA repair; 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

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