XPG (xeroderma pigmentosum, complementation group G)

XPE ( xeroderma pigmentosum , complementation group

XPC ( xeroderma pigmentosum , complementation group C )

Protein Description 939 amino acids. Expression Ubiquitous. Localisation Nuclear. Function Involved in the early recognition of DNA damage present in chromatine. Two proteins have been identified and implicated in (one of) the first steps of NER, i.e. the recognition of lesions in the DNA: the XPA gene product and the XPC gene product in complex with HR23B. This XPC-HR23B complex has been impli...

ERCC 4 ( xeroderma pigmentosum , complementation group F )

Xeroderma pigmentosum group F complementing factor; DNA-repair protein complementing XPF cells 905 amino acids; form a stable complex with the ERCC1 protein; The XPF protein and the ERCC1 protein form a complex that exhibits structure specific endonuclease activity that is responsible for the 5' incision during the NER reaction. XPF-ERCC1 also binds to XPA (through ERCC1) and to RPA (through XP...

XPA ( xeroderma pigmentosum , complementation group A )

Initiates DNA repair by binding to damaged sites with various affinities, depending upon the chemical structure of the lesion. Two proteins have been identified and implicated in (one of) the first steps of Nucleotide Excision Repair (NER), i.e. the recognition of lesions in the DNA: the XPA gene product and the XPC gene product. Cells from XPA patients are extremely sensitive to UV and have ve...

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

Of the eight human genes implicated in xeroderma pigmentosum, defects in XPG produce some of the most clinically diverse symptoms. These range from mild freckling to severe skeletal and neurologic abnormalities characteristic of Cockayne syndrome. Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affe...