POLH

这个基因编码一个特殊dna聚合酶y家族的成员。它复制未受损的DNA,保真度比其他DNA定向聚合酶低。然而,它能准确复制紫外线损伤的dna;当存在胸腺嘧啶二聚体时,这种聚合酶在新合成的dna中插入互补核苷酸,从而绕过损伤并抑制紫外线诱导dna损伤的诱变效应。这种多聚酶被认为参与了免疫球蛋白类开关重组过程中的高突变。该基因突变导致xpv,一种色素性干皮病的变种。已经发现了一些编码不同亚型的转录变体。[由RefSeq提供,2014年5月]
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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

别名

XPV,XP-V,RAD30,RAD30A

基因id

Chromosome:6 Start: 43543878 End: 43588260 Strand: 

药物

突变与药物

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