更多...
收起
This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
[中文简述(自动翻译):]  此基因编码参与转录和转录后控制途径中的肿瘤抑制。该蛋白质是PAF的蛋白复合物,其与RNA聚合酶II亚基POLR2A并用组蛋白甲基络合物关联的组分。该蛋白质似乎促进的3‘mRNA加工因子与积极转录染色质的关联。在这个基因的突变已与甲状旁腺功能亢进爪肿瘤综合征,家族孤立甲状旁腺功能亢进,甲状旁腺癌。 [由RefSeq的,2009年7月提供]
CDC73基因(以及对应的蛋白质)的细胞分布位置:
CDC73基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hyperparathyroidism-Jaw Tumor Syndrome | 0.494114977 | 52 | 5 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
HYPERPARATHYROIDISM 1 | 0.363257302 | 13 | 4 | BeFree_CLINVAR_CTD_human_UNIPROT |
Parathyroid Gland Adenocarcinoma | 0.2551248 | 47 | 6 | BeFree_CLINVAR_GAD_ORPHANET |
Parathyroid Neoplasms | 0.141503497 | 23 | 0 | BeFree_CTD_human_LHGDN |
Parathyroid Adenoma | 0.122714419 | 10 | 0 | BeFree_CLINVAR |
Parathyroid Adenoma, Familial | 0.12 | 0 | 0 | ORPHANET |
Hyperparathyroidism | 0.038306606 | 33 | 0 | BeFree_GAD_LHGDN |
Hyperparathyroidism, Primary | 0.007262917 | 10 | 0 | BeFree_GAD_LHGDN |
HYPERPARATHYROIDISM 3 | 0.004885954 | 18 | 0 | BeFree |
Hypercalcemia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Neoplasm Metastasis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Adenoma | 0.002985861 | 11 | 0 | BeFree |
Osteoporosis | 0.002367032 | 1 | 1 | GAD |
Pancreatic Neoplasm | 0.002367032 | 1 | 0 | GAD |
Familial hyperparathyroidism | 0.001628651 | 6 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 1 | 0.001357209 | 5 | 0 | BeFree |
Malignant tumor of parathyroid gland | 0.001085767 | 4 | 0 | BeFree |
Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
Multiple Endocrine Neoplasia | 0.000814326 | 3 | 0 | BeFree |
Parathyroid Diseases | 0.000814326 | 3 | 0 | BeFree |
Atypical adenoma | 0.000814326 | 3 | 0 | BeFree |
Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Ossifying Fibroma | 0.000542884 | 2 | 0 | BeFree |
Bone neoplasms | 0.000271442 | 1 | 0 | BeFree |
Cachexia | 0.000271442 | 1 | 0 | BeFree |
Endocrine Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Hyperlipidemia | 0.000271442 | 1 | 0 | BeFree |
Kidney Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Humoral hypercalcemia of malignancy (disorder) | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Uterine Polyp | 0.000271442 | 1 | 0 | BeFree |
Hypocalciuric hypercalcemia, familial, type 1 | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
hereditary Wilms' tumor (WT1) | 0.000271442 | 1 | 0 | BeFree |
Hurthle Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
Hereditary Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Osteogenic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。