Medical Knowledge Cockpit xfe progeroid syndrome

ERCC4

• Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease
• Specific cleavage of model recombination and repair intermediates by the yeast Rad1-Rad10 DNA endonuclease
• Radiation-induced lethality and mutation in a repair-deficient CHO cell line

ERCC4

Somatic tumors

Tumor types germline

skin basal cell, skin squamous cell, melanoma

Cancer Syndrom

xeroderma pigmentosum (F)

Translocation partner

Name

excision repair cross-complementing rodent repair deficiency, complementation group 4

Chromosome banding

16p13.3-p13.13

Cancer molecular gen.

Rec

Mutation type

Mis, N, F

Other syndrome disease