| General information | Literature | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 2073 |
Name | ERCC5 |
Synonymous | COFS3|ERCM2|UVDR|XPG|XPGC;excision repair cross-complementing rodent repair deficiency, complementation group 5;ERCC5;excision repair cross-complementing rodent repair deficiency, complementation group 5 |
Definition | DNA excision repair protein ERCC-5|DNA repair protein complementing XP-G cells|XPG-complementing protein|xeroderma pigmentosum, complementation group G |
Position | 13q33 |
Gene type | protein-coding |
Cancer type | Abstract |
| squamous cell Carcinoma ;Dermatological | We describe an unusual xeroderma pigmentosum (XP) patient with a mutation in XP complementation group G, representing only the third reported Japanese XP-G patient. A 40-year-old men (XP3HM), born from consanguineous parents experiencedsun sensitivity and pigmentary changes of sun-exposed skin since childhood. He developed a squamous cell carcinoma on his lower lip at the age of 40. He has neither neurological abnormalities nor Cockayne syndrome. The primary fibroblasts of the patient were hypersensitive to killing by UV (D(0) = 0.6 J/m(2)) and the post-UV unscheduled DNA synthesis was 8% of normal. Host cell reactivation complementation analysis implicated XP complementation group G. We identified a novel homozygous mutation (c.194T>C) in a conserved portion of the XPG(ERCC5) gene, resulting in a predicted amino acid change; p.L65P. We confirmed that thisgenetic change reduced DNA repair thus linking this mutation to increased skin cancer.#CI- (c) 2012 John Wiley & Sons A/S.#FAU - Moriwaki, Shinichi |