Gene: LOC107986063

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs754673606 in LOC107986063;XPC gene and XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PMID 21482201 2011 A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

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

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

PMID 19609301 2009 Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein.

rs754673606 in LOC107986063;XPC gene and Xeroderma Pigmentosum PMID 21482201 2011 A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

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