Primary Identifier | IPR000465 | Type | Family |
Short Name | XPA |
description | Xeroderma pigmentosum (XP) []is a human autosomal recessive disease,characterised by a high incidence of sunlight-induced skin cancer. Skin cells of individual's with this condition are hypersensitive to ultraviolet light, dueto defects in the incision step of DNA excision repair. There are a minimum ofseven genetic complementation groups involved in this pathway: XP-A to XP-G.XP-A is the most severe form of the disease and is due to defects in a 30kDanuclear protein called XPA (or XPAC) [].The sequence of the XPA protein is conserved from higher eukaryotes []toyeast (gene RAD14) []. XPA is a hydrophilic protein of 247 to 296 amino-acidresidues which has a C4-type zinc finger motif in its central section. |