基因名称:POLD1 (polymerase (DNA) delta 1, catalytic subunit)
别名: CDC2,CRCS10,MDPL,POLD
基因ID:5424
Chromosome(GRCh37) :19 Start: 50887461 End: 50921273 Strand: 1
信号通路: 细胞周期
基因组不稳定
能量代谢
遗传相关
靶向药: 派姆单抗(帕博利珠单抗)
化疗药:
简介:该基因编码DNA聚合酶δ的125kDa催化亚单位。DNA聚合酶三角洲既具有聚合酶活性,又具有3-5’外切酶活性,在DNA复制和修复中起着关键作用。另外还观察到该基因的剪接转录变体,该基因的假基因位于6号染色体的长臂上。
This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3′ to 5′ exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6.
POLD1突变与药物:
Y956N
药物:
派姆单抗(帕博利珠单抗)
疾病:
肺腺癌
C284Y
药物:
派姆单抗(帕博利珠单抗)
疾病:
肺腺癌
E374K
药物:
派姆单抗(帕博利珠单抗)
疾病:
非小细胞肺癌