ERCC5 Antibody – Rabbit Polyclonal

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

XPG: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too. Defects in ERCC5 are the cause of xeroderma pigmentosum complementation group G (XP-G); also known as xeroderma pigmentosum VII (XP7). Xeroderma pigmentosum is an autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. Some XP-G patients present features of Cockayne syndrome, including dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. Belongs to the XPG/RAD2 endonuclease family. XPG subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Deoxyribonuclease; DNA repair, damage; EC 3.1.-.-

Chromosomal Location of Human Ortholog: 13q33

Cellular Component: nucleoplasm; intermediate filament cytoskeleton; DNA replication factor A complex; holo TFIIH complex; DNA-directed RNA polymerase II, holoenzyme; nucleus

Molecular Function: protein binding; protein homodimerization activity; metal ion binding; endonuclease activity; double-stranded DNA binding; protein N-terminus binding; bubble DNA binding; single-stranded DNA binding; endodeoxyribonuclease activity

Biological Process: nucleotide-excision repair, DNA incision, 3'-to lesion; UV protection; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; DNA repair; DNA catabolic process, endonucleolytic; response to UV-C; negative regulation of apoptosis; response to UV

Disease: Xeroderma Pigmentosum, Complementation Group G