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Majority of cancer tissues showed weak to moderate nuclear positivity. Several cases of ovarian, lung and skin cancers were negative.
GENE INFORMATION
Gene name
XPC (HGNC Symbol)
Synonyms
RAD4, XPCC
Description
Xeroderma pigmentosum, complementation group C (HGNC Symbol)
Entrez gene summary
This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components 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, Mar 2009]
Q01831 [Direct mapping] DNA repair protein complementing XP-C cells X5DRB1 [Target identity:100%; Query identity:100%] Xeroderma pigmentosum, complementation group C isoform A
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
