Entrez gene ID | | 5429 |
Official gene symbol | | POLH |
Full name | | polymerase (DNA directed), eta |
Aliases | | ,FLJ16395,FLJ21978,RAD30,RAD30A,XP-V,XPV, |
Gene summary | | 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] |
Location | | Chromosome: 6 Locus: 6p21.1 |
Gene position | | 43543878 - 43588260 Map Viewer |
Gene orientation | | plus |
Gene size | | 44383 bp |
Gene sequence |
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OMIM ID | | 603968 |
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