ⓘ ERCC8 (gene)

                                     

ⓘ ERCC8 (gene)

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B CSB and P44 proteins, and subunits of RNA polymerase II transcription factor II N. mutations in this gene were identified in patients with hereditary disease Cockayne syndrome is a COP. CS is a premature aging disorder characterized by photosensitivity, impaired development and multi-level system of progressive degeneration. Cells CS is abnormally sensitive to ultraviolet radiation and defective in repair of transcriptionally active genes. Several alternative spliced transcripts variants encoding different isoforms have been found for this gene.

CS arises from a germ mutation in one of two genes CSAERCC8 or CSBERCC6. Mutations of CSA usually leads to a more moderate form of the COP CSO than mutation. Mutations in the CSA gene account for about 20% of cases of KS.

                                     
  • either of two genes CSA ERCC8 or CSB ERCC 6 About two thirds of CS patients have a mutation in the CSB ERCC 6 gene Mutations in ERCC 6 that lead to
  • excision repair protein ERCC - 1 is a protein that in humans is encoded by the ERCC 1 gene Together with ERCC 4, ERCC 1 forms the ERCC 1 - XPF enzyme complex that
  • ERCC 4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC 4 gene Together with ERCC 1, ERCC 4 forms the ERCC 1 - XPF
  • ERCC 2, or XPD is a protein involved in transcription - coupled nucleotide excision repair. The XPD ERCC 2 gene encodes for a 2.3 - kb mRNA containing 22
  • complementing XP - G cells is a protein that in humans is encoded by the ERCC 5 gene Excision repair cross - complementing rodent repair deficiency, complementation
  • dimers, and several forms of oxidative damage. Mutations in the XPB ERCC 3 gene can lead, in humans, to xeroderma pigmentosum XP or XP combined with
  • ERCC1, ERCC2, ERCC3, ERCC 4, ERCC 5, ERCC 6, and ERCC8 Members 1 though 5 are associated with Xeroderma Pigmentosum. Members 6 and 8 are associated with
  • aging. These genes and their corresponding proteins include ERCC 1 ERCC 1 ERCC 2 XPD ERCC 3 XPB ERCC 4 XPF ERCC 5 XPG ERCC 6 CSB and ERCC8 CSA DNA
  • ERCC excision repair 6 like, spindle assembly checkpoint helicase is a protein that in humans is encoded by the ERCC 6L gene This gene encodes a member
  • by the PMS2 gene This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. Human PMS2 related genes are located at
  • complementing XP - A cells is a protein that in humans is encoded by the XPA gene Nucleotide excision repair NER is a major pathway for repairing a variety