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This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因编码的Myc /最大/疯狂超家族的碱性螺旋 - 环 - 螺旋亮氨酸拉链转录因子。该蛋白质形成异二聚体复合物,并结合和激活时,在的甘油三酯合成基因的启动子中的葡萄糖依赖性,碳水化合物反应元件(杂项)基序。该基因的Williams-博伊伦综合征,在7q11.23染色体造成连续的基因缺失多系统发育障碍被删除。 [由RefSeq的,2008年7月提供]
MLXIPL基因(以及对应的蛋白质)的细胞分布位置:
MLXIPL基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Metabolic Syndrome X | 0.122638474 | 2 | 1 | BeFree_GAD_GWASCAT |
Liver carcinoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Kidney Failure, Chronic | 0.12 | 1 | 0 | CTD_human |
Obesity | 0.003995683 | 6 | 4 | BeFree_GAD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.003181358 | 4 | 3 | BeFree_GAD |
Malignant neoplasm of breast | 0.002909916 | 2 | 0 | BeFree_GAD |
Coronary Artery Disease | 0.002909916 | 2 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Cardiovascular Diseases | 0.002367032 | 1 | 0 | GAD |
Brain Ischemia | 0.002367032 | 1 | 0 | GAD |
Hypertriglyceridemia | 0.002367032 | 1 | 0 | GAD |
Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
Lipid Metabolism Disorders | 0.002367032 | 1 | 0 | GAD |
Dementia | 0.002367032 | 1 | 0 | GAD |
Hypertriglyceridemia result | 0.002367032 | 1 | 0 | GAD |
Fatty Liver | 0.001085767 | 4 | 0 | BeFree |
Steatohepatitis | 0.001085767 | 4 | 0 | BeFree |
Hyperglycemia | 0.000814326 | 3 | 0 | BeFree |
Williams Syndrome | 0.000814326 | 3 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000542884 | 2 | 0 | BeFree |
Coronary heart disease | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 1 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 1 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Glycogen Storage Disease | 0.000271442 | 1 | 0 | BeFree |
Hyperlipidemia, Familial Combined | 0.000271442 | 1 | 5 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Glomerulosclerosis (disorder) | 0.000271442 | 1 | 0 | BeFree |
Hepatocellular Adenoma | 0.000271442 | 1 | 0 | BeFree |
Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
Disseminated Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Prediabetes syndrome | 0.000271442 | 1 | 0 | BeFree |
Non-alcoholic Fatty Liver Disease | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Ischemic stroke | 0.000271442 | 1 | 0 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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