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This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是telombin家族的成员和编码参与端粒维持核蛋白质。具体而言,该蛋白作为结合端粒的TTAGGG重复序列,调节端粒长度和保护染色体从合法重组,灾难性的染色体的不稳定,和异常染色体分离结束一个多蛋白复合物的成员。该基因的转录增加的表达与癌变的胃和它的进展有关。可变剪接转录物变体已有描述。 [由RefSeq的,2008年7月提供]
POT1基因(以及对应的蛋白质)的细胞分布位置:
POT1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Chronic Lymphocytic Leukemia | 0.240542884 | 3 | 1 | BeFree_GWASCAT_ORPHANET |
melanoma | 0.121085767 | 4 | 1 | BeFree_CTD_human |
oligodendroglioma | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Anaplastic Oligodendroglioma | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Chromosome Aberrations | 0.12 | 1 | 0 | CTD_human |
Congenital chromosomal disease | 0.12 | 1 | 0 | CTD_human |
Lymphoid leukemia | 0.12 | 2 | 0 | CTD_human |
Skin Neoplasms | 0.12 | 1 | 0 | CTD_human |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 | 0.12 | 2 | 0 | UNIPROT |
Malignant neoplasm of breast | 0.008458305 | 7 | 2 | BeFree_GAD |
Malignant neoplasm of lung | 0.005276948 | 3 | 1 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Cardiovascular Diseases | 0.002367032 | 1 | 0 | GAD |
Cerebrovascular Disorders | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of stomach | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 2 | BeFree |
Stomach Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Hereditary Melanoma | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 1 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of skin | 0.000271442 | 1 | 1 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 1 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Parathyroid Adenoma | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Well Differentiated Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 1 | BeFree |
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