Gene: ERCC5

Alternate names for this Gene: COFS3|ERCC5-201|ERCM2|UVDR|XPG|XPGC

Gene Summary: 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, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene.

Gene is located in Chromosome: 13

Location in Chromosome : 13q33.1

Description of this Gene: ERCC excision repair 5, endonuclease

Type of Gene: protein-coding

Gene: BIVM-ERCC5

Alternate names for this Gene: ERCC5-202

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene.

Gene is located in Chromosome: 13

Location in Chromosome : 13q33.1

Description of this Gene: BIVM-ERCC5 readthrough

Type of Gene: protein-coding

rs121434571 in ERCC5;BIVM-ERCC5 gene and Xeroderma pigmentosum, group G PMID 11228268 2001 Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

PMID 11841555 2002 The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

PMID 12060391 2002 Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 23255472 2013 Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

PMID 7951246 1994 Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

PMID 9096355 1997 A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.