XPC (D-10) Antikörper: sc-74410

XPC Background Information
Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by a genetic predisposition to sunlight-induced skin cancer due to deficiencies in the DNA repair enzymes. The most frequent mutations are found in the XP genes of group A through G and group V, which encode nucleotide excision repair (NER) proteins. NER provides versatile DNA repair mechanisms to en-sure the proper functioning of all cells. The majority of patients with XP carry mutations in either the XPA or XPC genes, which encode proteins involved in the recognition of damaged DNA. The gene encoding human XPC maps to chromosome 3p25. XPC forms a complex with Cen2 and the human homolog of yeast Rad23B (HR23B), both of which stabilize XPC; it also excises thymine dimers from damaged DNA. Specifically, the carboxy-terminus of XPC is re-quired for HR23B and DNA binding and, subsequently, mutations leading to carboxy-terminal truncations result in nonfunctional XPC proteins.