更多...
收起
The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于UDP的糖基转移酶家族。它催化半乳糖转移到神经酰胺,在galactocerebrosides,这是中枢和外周神经系统的髓磷脂膜的丰富鞘脂的生物合成的关键酶步骤。另外剪接转录变体也发现了这种基因。 [由RefSeq的,2011年9月提供]
UGT8基因(以及对应的蛋白质)的细胞分布位置:
UGT8基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Galactosemias | 0.00272435 | 1 | 0 | LHGDN |
| Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
| Deafness | 0.002367032 | 1 | 0 | GAD |
| Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
| hearing impairment | 0.002367032 | 1 | 0 | GAD |
| Hearing Loss | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
| Myotonic Dystrophy | 0.000542884 | 2 | 0 | BeFree |
| Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
| Seizures | 0.000542884 | 2 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Congenital Myotonic Dystrophy | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
| Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Cholesterol Ester Storage Disease | 0.000271442 | 1 | 0 | BeFree |
| Elliptocytosis, Hereditary | 0.000271442 | 1 | 1 | BeFree |
| Epilepsy | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| melanoma | 0.000271442 | 1 | 2 | BeFree |
| Obesity | 0.000271442 | 1 | 3 | BeFree |
| oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Pancreatitis | 0.000271442 | 1 | 0 | BeFree |
| Respiratory Distress Syndrome, Adult | 0.000271442 | 1 | 0 | BeFree |
| Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
| Aortic Aneurysm, Thoracic | 0.000271442 | 1 | 0 | BeFree |
| Follicular thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Parasitemia | 0.000271442 | 1 | 0 | BeFree |
| Ectrodactyly | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma Of Esophagus | 0.000271442 | 1 | 0 | BeFree |
| Anaplastic Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
| Brain Tumor, Primary | 0.000271442 | 1 | 0 | BeFree |
| Well Differentiated Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
| Mild cognitive disorder | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Allergic rhinitis (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Split-Hand/Foot Malformation | 0.000271442 | 1 | 0 | BeFree |
| Split hand foot deformity 1 | 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。