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Rabbit Anti-ERCC8/FITC Conjugated antibody
background:
Nucleotide excision repair of DNA lesions occurs more rapidly and at a higher frequency on the template, or the transcribed, strand of DNA and to a much lesser extent on the coding, or the non-transcribed, strand or on transcriptionally inactive DNA. CSA and CSB are two related genes that are responsible for directing this preferential DNA repair pattern, known as transcriptional-repair coupling. Cells from patients with the USLVsensitive nucleotide excision repair disorder Cockayne's syndrome (CS) have specific mutations affecting these genes and results in defects of the preferential repair on the transcribed strand of activated genes. CSA is a protein that belongs in the "WD-repeat" family of proteins. CSB, which is also designated excision repair cross-complementing protein-6 (ERCSLC6), is the homolog of the yeast Rad26 protein. CSB belongs in the SWI/SNF family of proteins as it contains helicase motifs and ATPase activity.
Function:
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 USLVdependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitement 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.
Subunit:
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 with DDB1.
Subcellular Location:
Nucleus.
DISEASE:
Defects in ERCC8 are the cause of Cockayne syndrome type A (CSA) [MIM:211280]. 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.
Similarity:
Contains 5 WD repeats.
Database links:
Entrez Gene: 1161 Human
Entrez Gene: 71991 Mouse
Omim: 609412 Human
SwissProt: Q13216 Human
SwissProt: Q8CFD5 Mouse
Unigene: 435237 Human
Unigene: 212208 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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