Denigma

ERCC8 mutation

Species: Human (Taxid: 9606)
Factor: ERCC8
Manipulation: Loss-of-Function, Mutation
Effect:

Individuals with a mutation in ERCC8 (alias CKN1) have a shortened lifespan, short stature, precociously senile appearance, retinal degeneration, optic atrophy, sensitivity to sunlight, and mental retardation [14156156]. Hypertension and renal disease are also common in ERCC8 mutants [514720].


References:
  • 14156156: COCKAYNE'S SYNDROME. A REPORT OF FIVE NEW CASES WITH BIOCHEMICAL, CHROMOSOMAL, DERMATOLOGIC, GENETIC AND NEUROPATHOLOGIC OBSERVATIONS.
  • 514720: The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology.


    • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

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