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The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
[中文简述(自动翻译):]  低密度脂蛋白受体(低密度脂蛋白受体)基因家族包括参与具体配体的受体介导的内吞作用的细胞表面蛋白。低密度脂蛋白(LDL)在细胞膜通常结合并考虑到在溶酶体结束了的细胞,其中所述蛋白被降解和胆固醇,并可用于微粒体酶3-羟基-3-甲基戊二酰辅酶A的压制(HMG辅酶)还原酶,胆固醇合成的限速步骤。与此同时,胆固醇酯合成的倒数刺激发生。在该基因的突变导致常染色体显性遗传疾病,家族性高胆固醇血症。选择性剪接结果在多个抄本变形。[由RefSeq的,2010年9月提供]
LDLR基因(以及对应的蛋白质)的细胞分布位置:
LDLR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hypercholesterolemia, Familial | 0.462660056 | 712 | 65 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
Hypercholesterolemia | 0.427528298 | 151 | 22 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_RGD |
Hyperlipoproteinemia Type IIa | 0.328957582 | 64 | 10 | BeFree_CTD_human_MGD_UNIPROT |
Atherosclerosis | 0.177848251 | 141 | 1 | BeFree_CTD_human_GAD_LHGDN |
Coronary heart disease | 0.166567245 | 84 | 4 | BeFree_CTD_human_GAD_LHGDN |
Cardiovascular Diseases | 0.151899452 | 36 | 3 | BeFree_GAD_GWASCAT_LHGDN |
Coronary Artery Disease | 0.148327101 | 47 | 3 | BeFree_CTD_human_GAD_LHGDN |
Obesity | 0.136449672 | 20 | 0 | BeFree_CTD_human_GAD |
Hyperlipidemia | 0.129620018 | 21 | 0 | BeFree_CTD_human_GAD |
Dyslipidemias | 0.126905599 | 11 | 0 | BeFree_CTD_human_GAD |
Non-alcoholic Fatty Liver Disease | 0.121357209 | 8 | 0 | BeFree_CTD_human |
Fatty Liver | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Hyperplasia | 0.12 | 1 | 0 | CTD_human |
Aortic Aneurysm, Abdominal | 0.12 | 1 | 1 | GWASCAT |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.12 | 1 | 0 | CTD_human |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | 0.08 | 0 | 0 | MGD |
Arteriosclerosis | 0.037654475 | 131 | 1 | BeFree_GAD |
Alzheimer's Disease | 0.035124417 | 19 | 1 | BeFree_GAD_LHGDN |
Coronary Arteriosclerosis | 0.019196428 | 63 | 4 | BeFree_GAD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.018197875 | 12 | 0 | BeFree_GAD |
Hypertensive disease | 0.018197875 | 11 | 2 | BeFree_GAD |
Cerebrovascular accident | 0.018197875 | 10 | 2 | BeFree_GAD |
Myocardial Infarction | 0.014549579 | 15 | 0 | BeFree_GAD |
Hepatitis C | 0.011615919 | 15 | 0 | BeFree_GAD_LHGDN |
Hyperlipoproteinemia Type IIb | 0.007871814 | 29 | 0 | BeFree |
Liver carcinoma | 0.006524536 | 14 | 0 | BeFree_LHGDN |
Cholelithiasis | 0.006362715 | 7 | 0 | BeFree_GAD |
Metabolic Syndrome X | 0.006362715 | 7 | 0 | BeFree_GAD |
Migraine with Aura | 0.005634266 | 2 | 0 | BeFree_GAD_LHGDN |
Common Migraine | 0.005634266 | 2 | 0 | BeFree_GAD_LHGDN |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | 0.004885954 | 18 | 0 | BeFree |
Venous Thromboembolism | 0.004734064 | 2 | 0 | GAD |
Diabetes Mellitus | 0.003995683 | 7 | 0 | BeFree_GAD |
Hypobetalipoproteinemias | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Liver neoplasms | 0.003528744 | 13 | 0 | BeFree |
Hyperlipidemia, Familial Combined | 0.003452799 | 4 | 0 | BeFree_GAD |
Myocardial Ischemia | 0.003452799 | 5 | 0 | BeFree_GAD |
Cerebral Infarction | 0.003181358 | 4 | 2 | BeFree_GAD |
Vascular Diseases | 0.003181358 | 3 | 0 | BeFree_GAD |
Hepatitis C, Chronic | 0.003181358 | 4 | 0 | BeFree_GAD |
Xanthomatosis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Cholecystolithiasis | 0.002909916 | 3 | 0 | BeFree_GAD |
Bile Duct Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Hypertriglyceridemia | 0.00272435 | 1 | 0 | LHGDN |
Stenosis | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Hyperlipoproteinemia Type III | 0.002714419 | 10 | 0 | BeFree |
Congenital chromosomal disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Kidney Failure, Chronic | 0.002638474 | 2 | 0 | BeFree_GAD |
Hyperlipoproteinemia Type I | 0.002638474 | 2 | 0 | BeFree_GAD |
Osteoporosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Migraine Disorders | 0.002638474 | 1 | 0 | BeFree_GAD |
Primary hypercholesterolemia | 0.002442977 | 9 | 1 | BeFree |
Amyotrophic Lateral Sclerosis | 0.002367032 | 1 | 0 | GAD |
Anemia, Sickle Cell | 0.002367032 | 1 | 0 | GAD |
Aortic Diseases | 0.002367032 | 1 | 0 | GAD |
Biliary Tract Neoplasm | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Calcinosis | 0.002367032 | 1 | 0 | GAD |
Carotid Artery Diseases | 0.002367032 | 1 | 0 | GAD |
Cellulitis | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Obesity, Morbid | 0.002367032 | 1 | 0 | GAD |
Henoch-Schoenlein Purpura | 0.002367032 | 1 | 0 | GAD |
Tongue Diseases | 0.002367032 | 1 | 0 | GAD |
Chromosomal translocation | 0.002367032 | 1 | 0 | GAD |
Peripheral Vascular Diseases | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
Restenosis | 0.002367032 | 1 | 0 | GAD |
Dementia | 0.002367032 | 1 | 0 | GAD |
Acute Coronary Syndrome | 0.002367032 | 1 | 0 | GAD |
HIV Infections | 0.001900093 | 7 | 0 | BeFree |
Lipid Metabolism Disorders | 0.001628651 | 6 | 0 | BeFree |
Colorectal Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Autosomal dominant hereditary disorder | 0.001357209 | 5 | 0 | BeFree |
Xanthoma | 0.001357209 | 5 | 0 | BeFree |
Diabetes | 0.001085767 | 4 | 0 | BeFree |
Xanthoma tendinosum | 0.001085767 | 4 | 0 | BeFree |
Colon Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Aortic calcification | 0.001085767 | 4 | 0 | BeFree |
Aortic Aneurysm | 0.000814326 | 3 | 1 | BeFree |
Malignant tumor of colon | 0.000814326 | 3 | 0 | BeFree |
leukemia | 0.000814326 | 3 | 0 | BeFree |
Metabolic Diseases | 0.000814326 | 3 | 0 | BeFree |
Kidney Failure | 0.000814326 | 3 | 0 | BeFree |
Virus Diseases | 0.000814326 | 3 | 0 | BeFree |
Polygenic hypercholesterolemia | 0.000814326 | 3 | 0 | BeFree |
Carotid Atherosclerosis | 0.000814326 | 3 | 1 | BeFree |
Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
Aneurysm | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Common Cold | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma | 0.000542884 | 2 | 0 | BeFree |
Hyperlipoproteinemias | 0.000542884 | 2 | 0 | BeFree |
Hypothyroidism | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Atherosclerosis of aorta | 0.000542884 | 2 | 0 | BeFree |
Niemann-Pick Disease, Type C | 0.000542884 | 2 | 0 | BeFree |
Osteoporosis with pseudoglioma | 0.000542884 | 2 | 0 | BeFree |
Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Vascular inflammations | 0.000542884 | 2 | 0 | BeFree |
Ischemic stroke | 0.000542884 | 2 | 1 | BeFree |
Renal Insufficiency | 0.000542884 | 2 | 0 | BeFree |
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 | 0.000542884 | 2 | 0 | BeFree |
Steatohepatitis | 0.000542884 | 2 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.000542884 | 2 | 1 | BeFree |
Anorexia Nervosa | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Craniosynostosis | 0.000271442 | 1 | 0 | BeFree |
Cytomegalovirus Infections | 0.000271442 | 1 | 0 | BeFree |
Epidermolysis Bullosa | 0.000271442 | 1 | 0 | BeFree |
Hereditary Multiple Exostoses | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree |
Hyperthyroidism | 0.000271442 | 1 | 0 | BeFree |
Influenza | 0.000271442 | 1 | 0 | BeFree |
Leprosy | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
liposarcoma | 0.000271442 | 1 | 0 | BeFree |
Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
Malaria | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Peripheral Neuropathy | 0.000271442 | 1 | 0 | BeFree |
Peritonitis | 0.000271442 | 1 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Protein Deficiency | 0.000271442 | 1 | 0 | BeFree |
Pterygium | 0.000271442 | 1 | 0 | BeFree |
Ankylosing spondylitis | 0.000271442 | 1 | 0 | BeFree |
Uremia | 0.000271442 | 1 | 0 | BeFree |
Vitamin D Deficiency | 0.000271442 | 1 | 0 | BeFree |
Cerebral Amyloid Angiopathy | 0.000271442 | 1 | 0 | BeFree |
Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
Alcohol abuse | 0.000271442 | 1 | 0 | BeFree |
Rous Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Retrosternal pain | 0.000271442 | 1 | 0 | BeFree |
Pinguecula | 0.000271442 | 1 | 0 | BeFree |
Atrophy of testis | 0.000271442 | 1 | 0 | BeFree |
Idiopathic osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Xanthomatosis, Cerebrotendinous | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Coinfection | 0.000271442 | 1 | 2 | BeFree |
Rhinovirus infection | 0.000271442 | 1 | 0 | BeFree |
Obesity, Abdominal | 0.000271442 | 1 | 0 | BeFree |
Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
Glaucoma, Primary Open Angle | 0.000271442 | 1 | 0 | BeFree |
Premature adrenarche | 0.000271442 | 1 | 0 | BeFree |
Secondary hypercholesterolemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
Primary osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
lipoprotein disorder | 0.000271442 | 1 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
Bile duct carcinoma | 0.000271442 | 1 | 1 | BeFree |
AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
Dent's disease | 0.000271442 | 1 | 0 | BeFree |
Primary infection NOS | 0.000271442 | 1 | 0 | BeFree |
Spondylarthropathies | 0.000271442 | 1 | 0 | BeFree |
First myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Tumorigenesis | 0.000271442 | 1 | 0 | BeFree |
Heymann Nephritis | 0.000271442 | 1 | 0 | BeFree |
Peripheral Arterial Diseases | 0.000271442 | 1 | 3 | BeFree |
OVERLAP CONNECTIVE TISSUE DISEASE | 0.000271442 | 1 | 0 | BeFree |
LIPOPROTEIN GLOMERULOPATHY | 0.000271442 | 1 | 0 | BeFree |
Adiponectin Deficiency | 0.000271442 | 1 | 0 | BeFree |
Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
Deficiency of glucose-6-phosphate dehydrogenase | 0.000271442 | 1 | 0 | BeFree |
HEPATIC LIPASE DEFICIENCY (disorder) | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis in children | 0.000271442 | 1 | 0 | BeFree |
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