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XPCxeroderma pigmentosum, complementation group C |
Known also as: XP3; RAD4; XPCC;
| NCBI Gene ID: | 7508 |
| NCBI Ensembl Id: | ENSG00000154767 |
| MIM Id: (from NCBI OMIM database) | 613208 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
References:
| Authors | Title | Journal |
| Legerski R, Peterson C | Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. | Nature Sept. 3, 1992 |
| Sugasawa K, Shimizu Y, Iwai S, Hanaoka F | A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. | DNA Repair (Amst) Feb. 22, 2002 |
| Lehner B, Sanderson CM | A protein interaction framework for human mRNA degradation. | Genome Res July 1, 2004 |
| Marini F, Nardo T, Giannattasio M, Minuzzo M, Stefanini M, Plevani P, Muzi Falconi M | DNA nucleotide excision repair-dependent signaling to checkpoint activation. | Proc Natl Acad Sci U S A Nov. 14, 2006 |
Last modification of this entry: Oct. 6, 2010.
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