该基因编码DNA聚合酶epsilon的催化亚单位。这种酶参与DNA修复和染色体DNA复制。该基因突变与结直肠癌12和面部畸形、免疫缺陷、利维多和身材矮小有关。
This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature.
| 基因名： | POLE |
| 别名： | CRCS12,FILS,POLE1 |
| 基因ID： | 5426 |
| Chromosome： (GRCh37) | 12 Start: 133200348 End: 133263951 Strand: -1 |
| 信号通路： | 细胞周期 能量代谢 遗传相关 |
| 靶向药： | 派姆单抗（帕博利珠单抗） |
| 化疗药： |
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