Gene: XPC

Alternate names for this Gene: RAD4|XP3|XPCC|p125

Gene Summary: The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: XPC complex subunit, DNA damage recognition and repair factor

Type of Gene: protein-coding

rs113043636 in XPC gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121965088 in XPC gene and XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PMID 24218596 2013 Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

PMID 10766188 2000 Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.

PMID 25256075 2015 Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.

PMID 11511294 2001 A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

PMID 23173980 2013 Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.

PMID 27387384 2016 A unique chromosomal in-frame deletion identified among seven XP-C patients.

PMID 16081512 2006 Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

PMID 16990803 2007 Xeroderma pigmentosum group C in an isolated region of Guatemala.

PMID 26884178 2016 Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

PMID 17079196 2007 A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

PMID 27607234 2017 Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

PMID 20054342 2010 A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11121128 2000 Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.

PMID 15107491 2004 The initiative role of XPC protein in cisplatin DNA damaging treatment-mediated cell cycle regulation.

PMID 20463673 2010 Founder mutations in xeroderma pigmentosum.

PMID 19478817 2009 High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

PMID 19119101 2008 Skin cancers, blindness, and anterior tongue mass in African brothers.

PMID 23278166 2013 Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

PMID 25566891 2015 Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

PMID 23984341 2013 Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

rs374117852 in XPC gene and Xeroderma Pigmentosum PMID 17079196 2007 A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

PMID 24218596 2013 Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

PMID 16081512 2006 Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

PMID 11121128 2000 Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.

PMID 27413738 2016 Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.