Afterwards progress of xeroderma pigmentosum A group.

XPE ( xeroderma pigmentosum , complementation group

Neuroimaging features of xeroderma pigmentosum group A

Xeroderma pigmentosum group A (XPA) is a hereditary dermatological disease in which hypersensitivity to ultraviolet radiation and various neurological symptoms are observed. In this study, to evaluate the degeneration occurring in the brain of XPA patients, neurological examinations by an established neurologist and 3-Tesla magnetic resonance imaging (MRI) were performed in 10 Japanese XPA pati...

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...

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...