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POLHpolymerase (DNA directed), eta |
Known also as: XPV; XP-V; RAD30; RAD30A; FLJ16395; FLJ21978;
| NCBI Gene ID: | 5429 |
| NCBI Ensembl Id: | ENSG00000170734 |
| MIM Id: (from NCBI OMIM database) | 603968 |
| Species: | Homo sapiens |
| This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Johnson RE, Kondratick CM, Prakash S, Prakash L | hRAD30 mutations in the variant form of xeroderma pigmentosum. | Science July 9, 1999 |
| Yamada A, Masutani C, Iwai S, Hanaoka F | Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. | Nucleic Acids Res July 1, 2000 |
| Kamath-Loeb AS, Lan L, Nakajima S, Yasui A, Loeb LA | Werner syndrome protein interacts functionally with translesion DNA polymerases. | Proc Natl Acad Sci U S A June 19, 2007 |
| Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Bjorling E, Asplund A, Ponten F, Brismar H, Uhlen M, Andersson-Svahn H | Toward a confocal subcellular atlas of the human proteome. | Mol Cell Proteomics March 1, 2008 |
Last modification of this entry: Oct. 6, 2010.
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