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This gene encodes the smallest 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. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
[中文简述(自动翻译):]  该基因编码DNA聚合酶三角洲的最小亚基。的DNA聚合酶δ具有既聚合酶和3‘至5‘外切酶活性和在DNA复制和修复的关键作用。所编码的蛋白质增强的DNA聚合酶δ的活性和播放通过与DNA螺旋Bloom综合征蛋白质相互作用在叉修理和稳定的作用。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2012年3月提供]
POLD4基因(以及对应的蛋白质)的细胞分布位置:
POLD4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Bloom Syndrome | 0.00272435 | 1 | 0 | LHGDN |
Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000542884 | 2 | 0 | BeFree |
Retinal Diseases | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Malaria | 0.000271442 | 1 | 0 | BeFree |
Otitis Media | 0.000271442 | 1 | 0 | BeFree |
Peripheral Neuropathy | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Gasping for breath | 0.000271442 | 1 | 0 | BeFree |
Abnormal breathing | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Infectious Otitis Media | 0.000271442 | 1 | 0 | BeFree |
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