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ERCCs

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ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC7 ERCC8

Pathology

- ERCC1 (MIM.126380)

  • cerebrooculofacioskeletal syndrome locus 4 (COFS4) (MIM.610758)

- ERCC2 (MIM.)

  • xeroderma pigmentosum complementation group D (MIM.278730)
  • trichothiodystrophy (TTD) (MIM.601675)
  • cerebrooculofacioskeletal syndrome locus 2 (COFS2) (MIM.610756)

- ERCC3 (MIM.133510)

  • type B xeroderma pigmentosum/Cockayne syndrome (MIM.610651)
  • Cockayne syndrome
  • trichothiodystrophy (TTD) (MIM.601675)

- ERCC4 (MIM.133520)

  • xeroderma pigmentosum complementation group F (XPF) (278760)
  • xeroderma pigmentosum complementation group E (XPE) with progeroid syndrome (MIM.610965)

- ERCC5 (MIM.133530)

  • xeroderma pigmentosum complementation group G (MIM.278780)
  • severe early-onset XPG/Cockayne syndrome (MIM.278780)
  • Cockayne syndrome

- ERCC6 (MIM.133540)

  • Cockayne syndrome type B (MIM.133540)
  • cerebrooculofacioskeletal syndrome (COFS syndrome) (MIM.214150)
  • UV-sensitive syndrome (MIM.600630)

- ERCC8 (MIM.609412)

  • Cockayne syndrome type A (MIM.216400)