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Gene : XPC Homo sapiens

Name  ? XPC complex subunit, DNA damage recognition and repair factor Cytological Location  3p25.1
Brief Description  XPC complex subunit, DNA damage recognition and repair factor
Description  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. [provided by RefSeq, Aug 2017]
  • synonyms:
  • XPCC,
  • HGNC:12816,
  • NM_004628,
  • XPC,
  • RAD4,
  • XPCC,
  • RAD4,
  • xeroderma pigmentosum group C protein,
  • p125,
  • xeroderma pigmentosum, complementation group C,
  • uc011ave.3,
  • OTTHUMG00000155526,
  • XP3
  • identifiers:
  • 7508,
  • ENSG00000154767,
  • XPC

Genome feature

Region: gene ? Length: 33528  
Location: 3:14145145-14178672 reverse strand Cyto location: 3p25.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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3753 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results