Ercc2

Symbol: Ercc2
Name: Excision repair cross-complementing rodent repair deficiency, complementation group 2
Alias: XPD
Entrez gene ID: 13871
Ensembl gene ID: ENSMUSG00000030400
Species: Mouse (Taxid: 10090)

Functional description:
ATP-dependent 5'-3' DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers (By similarity). [UniProt]

Observation:

Mutations in Ercc2 increases cancer incidence and appear to accelerate ageing. Homozyogus mutation of Ercc2 results in an extreme shortening (71%) of lifespan (mean lifespan = 7 months) relative to wild-type (mean lifespan = 24 months) [de Boer et al. 2002]. The shortened lifespan of the mutant mouse is accompanied by symptoms of premature aging including osteoporosis, early greying, cahexia, and infertility. It provides a mouse model for the britte hair disorder trichothiodystrophy (TTD) as it phenotypes include britte hair, UV sensitivity, and developmental defects [9651581].



Interventions:
  • Ercc2 mutation -71%

  • Assays: Organismal Lifespan

    Classification:
  • Aging Associated


  • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

  • Homologs
  • ERCC2 (9606)
  • ERCC2 (9598)
  • ERCC2 (9615)
  • ERCC2 (9913)
  • Ercc2 (10090)
  • ercc2 (7955)
  • Xpd (7227)
  • AgaP_AGAP002988 (7165)
  • Y50D7A.2 (6239)
  • rad15 (4896)
  • RAD3 (4932)
  • KLLA0C17776g (28985)
  • AGOS_AGR114C (33169)
  • GeneID:2676710 (148305)
  • NCU01625 (5141)
  • UVH6 (3702)
  • Os05g0144800 (4530)
  • PFI1650w (5833)

  • Inparanoids
  • ENSMUSP00000054380 (10090)
  • ENSRNOP00000024247 (10116)
  • YER171W (4932)
  • SPAC1D4.12 (4896)
  • ENSMUSP00000054380 (10090)
  • ENSMUSP00000054380 (10090)
  • ENSMUSP00000054380 (10090)



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