Disease

Cockayne Syndrome

About the Disease
Cockayne Syndrome, also known as dwarfism-retinal atrophy-deafness syndrome, is related to cockayne syndrome type iii and cockayne syndrome b. An important gene associated with Cockayne Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Homology Directed Repair and Formation of HIV elongation complex in the absence of HIV Tat. The drugs Sorbitol and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are postnatal growth retardation and cachexia

Common Targets
ERCC6 | ERCC2 | ERCC8 | LMNA | ERCC4 | SIRT5 | ERCC1

疾病靶点研报
Cockayne Syndrome

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