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This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
[中文简述(自动翻译):]  该基因编码GTP酶的dynamin上超家族的成员。所编码的蛋白质介导的线粒体和过氧化物酶体分裂,并参与发育调控细胞凋亡和编程坏死。这个基因的功能障碍的若干神经障碍,包括阿尔茨海默氏病有关。在这种基因突变与常染色体显性遗传疾病,脑病,致死相关联,由于有缺陷的线粒体和过氧化物酶体裂变(EMPF)。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2013年6月提供]
DNM1L基因(以及对应的蛋白质)的细胞分布位置:
DNM1L基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
Acidosis, Lactic | 0.12 | 1 | 0 | CTD_human |
Microcephaly | 0.12 | 1 | 0 | CTD_human |
Optic Atrophy | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Mitochondrial Encephalomyopathies | 0.12 | 1 | 0 | CTD_human |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Ischemia | 0.001085767 | 4 | 0 | BeFree |
Parkinson Disease | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Alzheimer's Disease | 0.000542884 | 2 | 0 | BeFree |
Huntington Disease | 0.000542884 | 2 | 0 | BeFree |
Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Muscle degeneration | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
Optic Atrophy, Autosomal Dominant | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Brain Infarction | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
Parkinson Disease, Familial, Type 1 | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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