更多...
收起
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因产物是乳糜微粒和低密度脂蛋白的主要载脂蛋白。它发生在血浆作为两种主要同种型,载脂蛋白B-48和载脂蛋白B-100:前者在肠和肝脏中后者只合成。肠道和载脂蛋白B肝形式由单个基因从一个单一的,非常长的mRNA编码。两个同种型共享共同的N-末端序列。较短载脂蛋白B-48蛋白在残基2180(CAA-> UAA)的载脂蛋白B-100转录物的RNA编辑之后产生的,导致产生终止密码子,和早期翻译终止。突变此基因或其调节区原因hypobetalipoproteine??mia,normotriglyceridemic hypobetalipoproteine??mia,和高胆固醇血症由于配体缺陷型载脂蛋白B,影响血浆胆固醇和载脂蛋白B水平的疾病。 [由RefSeq的,2008年7月提供]
APOB基因(以及对应的蛋白质)的细胞分布位置:
APOB基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hypercholesterolemia, Familial | 0.325067179 | 139 | 2 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
| Cardiovascular Diseases | 0.271466189 | 31 | 1 | BeFree_CTD_human_GAD_GWASCAT |
| Hypercholesterolemia | 0.257793508 | 67 | 3 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Familial hypobetalipoproteinemia | 0.256286512 | 60 | 13 | BeFree_CLINVAR_UNIPROT |
| Hyperlipoproteinemia Type IIb | 0.249771907 | 38 | 3 | BeFree_CLINVAR_UNIPROT |
| Fatty Liver | 0.20434307 | 19 | 0 | BeFree_CTD_human_RGD |
| Coronary heart disease | 0.182126646 | 90 | 8 | BeFree_CTD_human_GAD_LHGDN |
| Hypobetalipoproteinemias | 0.170611248 | 82 | 1 | BeFree_CLINVAR_GAD_LHGDN |
| Hyperlipidemia | 0.143636644 | 21 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Dyslipidemias | 0.135068718 | 22 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Metabolic Syndrome X | 0.131911105 | 13 | 2 | BeFree_GAD_GWASCAT |
| Hypertriglyceridemia | 0.129468128 | 4 | 1 | CTD_human_GAD |
| Peripheral Neuropathy | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Hypobetalipoproteinemia, Familial, Apolipoprotein B | 0.120271442 | 4 | 0 | BeFree_CTD_human |
| Behcet Syndrome | 0.12 | 1 | 0 | CTD_human |
| Ataxia with vitamin E deficiency | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Endotoxemia | 0.08 | 1 | 0 | RGD |
| Hypobetalipoproteinemia, Familial, 2 | 0.08 | 0 | 0 | MGD |
| Coronary Artery Disease | 0.058965152 | 64 | 13 | BeFree_GAD_LHGDN |
| Myocardial Infarction | 0.043644855 | 27 | 1 | BeFree_GAD_LHGDN |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.038295843 | 27 | 3 | BeFree_GAD |
| Coronary Arteriosclerosis | 0.035841597 | 78 | 0 | BeFree_GAD |
| Atherosclerosis | 0.032398729 | 61 | 0 | BeFree_GAD_LHGDN |
| Obesity | 0.032009073 | 27 | 1 | BeFree_GAD |
| Hypertensive disease | 0.022931939 | 13 | 1 | BeFree_GAD |
| Cerebrovascular accident | 0.015731154 | 7 | 1 | BeFree_GAD_LHGDN |
| Arteriosclerosis | 0.015200745 | 56 | 0 | BeFree |
| Hyperlipidemia, Familial Combined | 0.013234638 | 31 | 2 | BeFree_GAD_LHGDN |
| Myocardial Ischemia | 0.012539865 | 11 | 0 | BeFree_GAD_LHGDN |
| Cholelithiasis | 0.011368221 | 9 | 2 | BeFree_GAD |
| Abetalipoproteinemia | 0.010053281 | 27 | 0 | BeFree_LHGDN |
| Hypertriglyceridemia result | 0.009468128 | 4 | 1 | GAD |
| Cholecystolithiasis | 0.008729747 | 8 | 2 | BeFree_GAD |
| Carotid Artery Diseases | 0.007458414 | 3 | 0 | GAD_LHGDN |
| Cerebral Hemorrhage | 0.007458414 | 2 | 0 | GAD_LHGDN |
| Malignant neoplasm of urinary bladder | 0.007101096 | 3 | 0 | GAD |
| Hyperlipoproteinemia Type IIa | 0.006786047 | 25 | 2 | BeFree |
| Carotid Atherosclerosis | 0.006091273 | 7 | 2 | BeFree_GAD |
| Gall Bladder Diseases | 0.005634266 | 3 | 0 | BeFree_GAD_LHGDN |
| Infection | 0.0054487 | 2 | 0 | LHGDN |
| Spina Bifida Cystica | 0.005091382 | 1 | 0 | GAD_LHGDN |
| Acute Coronary Syndrome | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Anemia, Sickle Cell | 0.005005506 | 3 | 1 | BeFree_GAD |
| Cerebral Infarction | 0.005005506 | 2 | 0 | BeFree_GAD |
| Ischemia | 0.005005506 | 3 | 0 | BeFree_GAD |
| Alzheimer's Disease | 0.004734064 | 2 | 0 | GAD |
| Femur Head Necrosis | 0.004734064 | 2 | 0 | GAD |
| Inflammatory Bowel Diseases | 0.004734064 | 2 | 3 | GAD |
| Insulin Resistance | 0.004734064 | 2 | 0 | GAD |
| Schizophrenia | 0.004734064 | 1 | 1 | GAD |
| Stomach Neoplasms | 0.004734064 | 2 | 0 | GAD |
| Thrombosis | 0.004734064 | 2 | 0 | GAD |
| Systemic arterial pressure | 0.004734064 | 2 | 1 | GAD |
| Liver carcinoma | 0.004614512 | 17 | 0 | BeFree |
| Liver neoplasms | 0.004071628 | 15 | 0 | BeFree |
| Heart Diseases | 0.003995683 | 7 | 0 | BeFree_GAD |
| Peripheral Vascular Diseases | 0.003995683 | 7 | 0 | BeFree_GAD |
| Peripheral Arterial Diseases | 0.003995683 | 6 | 0 | BeFree_GAD |
| Vascular Diseases | 0.003724241 | 6 | 0 | BeFree_GAD |
| Age related macular degeneration | 0.003724241 | 6 | 0 | BeFree_GAD |
| Malignant neoplasm of gallbladder | 0.003452799 | 4 | 2 | BeFree_GAD |
| Hepatitis C, Chronic | 0.003452799 | 5 | 1 | BeFree_GAD |
| Male infertility | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| HIV Infections | 0.003257302 | 12 | 0 | BeFree |
| Nephrotic Syndrome | 0.003181358 | 3 | 0 | BeFree_GAD |
| Aortic Valve Stenosis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Kidney Failure, Chronic | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Bile Duct Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Diabetic Nephropathy | 0.00272435 | 1 | 0 | LHGDN |
| gallbladder neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Neurofibromatosis 1 | 0.00272435 | 1 | 0 | LHGDN |
| Riboflavin Deficiency | 0.00272435 | 1 | 0 | LHGDN |
| Biliary calculi | 0.00272435 | 1 | 0 | LHGDN |
| Coronary Stenosis | 0.002638474 | 2 | 0 | BeFree_GAD |
| Essential Tremor | 0.002638474 | 1 | 0 | BeFree_GAD |
| Dementia | 0.002638474 | 2 | 0 | BeFree_GAD |
| Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
| Altitude Sickness | 0.002367032 | 1 | 0 | GAD |
| Amyotrophic Lateral Sclerosis | 0.002367032 | 1 | 0 | GAD |
| Azoospermia | 0.002367032 | 1 | 0 | GAD |
| beta Thalassemia | 0.002367032 | 1 | 0 | GAD |
| Biliary Tract Neoplasm | 0.002367032 | 1 | 0 | GAD |
| Calcinosis | 0.002367032 | 1 | 0 | GAD |
| Brain Ischemia | 0.002367032 | 1 | 0 | GAD |
| Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
| Congenital chromosomal disease | 0.002367032 | 1 | 0 | GAD |
| Mental Depression | 0.002367032 | 1 | 1 | GAD |
| Diabetic Angiopathies | 0.002367032 | 1 | 0 | GAD |
| Diabetic Neuropathies | 0.002367032 | 1 | 0 | GAD |
| Fetal Growth Retardation | 0.002367032 | 1 | 0 | GAD |
| Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
| Inflammation | 0.002367032 | 1 | 0 | GAD |
| Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
| Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
| Oligospermia | 0.002367032 | 1 | 0 | GAD |
| Bone necrosis | 0.002367032 | 1 | 0 | GAD |
| Postoperative Complications | 0.002367032 | 1 | 0 | GAD |
| Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Chromosomal translocation | 0.002367032 | 1 | 0 | GAD |
| Virilism | 0.002367032 | 1 | 0 | GAD |
| Holoprosencephaly | 0.002367032 | 1 | 0 | GAD |
| Left Ventricular Hypertrophy | 0.002367032 | 1 | 0 | GAD |
| Premature Birth | 0.002367032 | 1 | 0 | GAD |
| Erectile dysfunction | 0.002367032 | 1 | 1 | GAD |
| Restenosis | 0.002367032 | 1 | 0 | GAD |
| Complications of Diabetes Mellitus | 0.002367032 | 1 | 1 | GAD |
| Asthenozoospermia | 0.002367032 | 1 | 0 | GAD |
| Hypoxia-Ischemia, Brain | 0.002367032 | 1 | 0 | GAD |
| Blood Coagulation Disorders, Inherited | 0.002367032 | 1 | 0 | GAD |
| Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
| Colorectal Cancer | 0.002367032 | 1 | 0 | GAD |
| ASPIRIN RESISTANCE | 0.002367032 | 1 | 0 | GAD |
| Venous Thromboembolism | 0.002367032 | 1 | 0 | GAD |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.002367032 | 1 | 0 | GAD |
| Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
| Recurrent pregnancy loss | 0.002367032 | 1 | 0 | GAD |
| Hepatitis C | 0.002171535 | 8 | 1 | BeFree |
| Lipid Metabolism Disorders | 0.001900093 | 7 | 0 | BeFree |
| Diabetes Mellitus | 0.001628651 | 6 | 0 | BeFree |
| Hepatitis B | 0.001628651 | 6 | 0 | BeFree |
| Hyperlipoproteinemia Type III | 0.001357209 | 5 | 0 | BeFree |
| Ischemic stroke | 0.001357209 | 5 | 0 | BeFree |
| Diabetes | 0.001085767 | 4 | 0 | BeFree |
| Obesity, Abdominal | 0.001085767 | 4 | 0 | BeFree |
| Overweight | 0.001085767 | 4 | 0 | BeFree |
| Cholesterol gallstones | 0.001085767 | 4 | 0 | BeFree |
| Steatohepatitis | 0.001085767 | 4 | 0 | BeFree |
| Obesity, Visceral | 0.001085767 | 4 | 1 | BeFree |
| Ischemic Cerebrovascular Accident | 0.001085767 | 4 | 0 | BeFree |
| Liver Cirrhosis | 0.000814326 | 3 | 0 | BeFree |
| Malabsorption Syndrome | 0.000814326 | 3 | 0 | BeFree |
| Tangier Disease | 0.000814326 | 3 | 0 | BeFree |
| Virus Diseases | 0.000814326 | 3 | 0 | BeFree |
| Gallbladder Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 3 | BeFree |
| Hyperglycemia | 0.000542884 | 2 | 0 | BeFree |
| Hyperinsulinism | 0.000542884 | 2 | 0 | BeFree |
| Hyperlipoproteinemia Type IV | 0.000542884 | 2 | 0 | BeFree |
| Psoriasis | 0.000542884 | 2 | 0 | BeFree |
| Essential Hypertension | 0.000542884 | 2 | 0 | BeFree |
| Eyelid Xanthoma | 0.000542884 | 2 | 0 | BeFree |
| Acute myocardial infarction | 0.000542884 | 2 | 0 | BeFree |
| Old myocardial infarction | 0.000542884 | 2 | 0 | BeFree |
| Impaired glucose tolerance | 0.000542884 | 2 | 0 | BeFree |
| Xanthoma | 0.000542884 | 2 | 0 | BeFree |
| Non-alcoholic Fatty Liver Disease | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 3 | BeFree |
| Cirrhosis | 0.000542884 | 2 | 0 | BeFree |
| HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | 0.000542884 | 2 | 0 | BeFree |
| Insulin resistance syndrome | 0.000542884 | 2 | 0 | BeFree |
| Adenovirus Infections | 0.000271442 | 1 | 0 | BeFree |
| Aniridia | 0.000271442 | 1 | 0 | BeFree |
| Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
| Ataxia | 0.000271442 | 1 | 0 | BeFree |
| Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
| Bulimia | 0.000271442 | 1 | 0 | BeFree |
| Carotid Stenosis | 0.000271442 | 1 | 0 | BeFree |
| Celiac Disease | 0.000271442 | 1 | 0 | BeFree |
| Cholera | 0.000271442 | 1 | 0 | BeFree |
| Chylous Ascites | 0.000271442 | 1 | 0 | BeFree |
| Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
| Dementia, Vascular | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Glycogen Storage Disease Type I | 0.000271442 | 1 | 0 | BeFree |
| Hydatidiform Mole | 0.000271442 | 1 | 0 | BeFree |
| Hyperthyroidism | 0.000271442 | 1 | 0 | BeFree |
| Hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
| Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
| Lecithin Acyltransferase Deficiency | 0.000271442 | 1 | 0 | BeFree |
| Lichen Planus | 0.000271442 | 1 | 0 | BeFree |
| Hyperlipoproteinemia Type I | 0.000271442 | 1 | 0 | BeFree |
| Liver Cirrhosis, Alcoholic | 0.000271442 | 1 | 0 | BeFree |
| Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
| Polycystic Ovary Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Polycythemia | 0.000271442 | 1 | 0 | BeFree |
| Retinitis Pigmentosa | 0.000271442 | 1 | 0 | BeFree |
| Lentivirus Infections | 0.000271442 | 1 | 0 | BeFree |
| Atherosclerosis of aorta | 0.000271442 | 1 | 0 | BeFree |
| Disease of capillaries | 0.000271442 | 1 | 0 | BeFree |
| Chronic intestinal pseudo-obstruction | 0.000271442 | 1 | 0 | BeFree |
| Mucolipidosis Type IV | 0.000271442 | 1 | 0 | BeFree |
| Fat intolerance | 0.000271442 | 1 | 0 | BeFree |
| Ruptured cerebral aneurysm | 0.000271442 | 1 | 0 | BeFree |
| Steatocystoma multiplex | 0.000271442 | 1 | 0 | BeFree |
| beta^0^ Thalassemia | 0.000271442 | 1 | 0 | BeFree |
| Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
| Cholesteryl Ester Transfer Protein Deficiency | 0.000271442 | 1 | 0 | BeFree |
| Avitaminosis | 0.000271442 | 1 | 0 | BeFree |
| Complete hydatidiform mole | 0.000271442 | 1 | 0 | BeFree |
| Parathyroid Gland Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Acanthocytosis | 0.000271442 | 1 | 0 | BeFree |
| Bile duct carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Chylomicron retention disease | 0.000271442 | 1 | 0 | BeFree |
| Triple vessel disease | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
| Macroangiopathy | 0.000271442 | 1 | 0 | BeFree |
| Drusen | 0.000271442 | 1 | 0 | BeFree |
| Staphylococcus aureus infection | 0.000271442 | 1 | 0 | BeFree |
| Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Vitamin Deficiency | 0.000271442 | 1 | 0 | BeFree |
| Chronic Kidney Diseases | 0.000271442 | 1 | 7 | BeFree |
| Hypoalphalipoproteinemia, Familial | 0.000271442 | 1 | 0 | BeFree |
| Adult growth hormone deficiency | 0.000271442 | 1 | 0 | BeFree |
| Chronic kidney disease stage 5 | 0.000271442 | 1 | 0 | BeFree |
| Alcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
| Low density lipoprotein receptor mutation | 0.000271442 | 1 | 0 | BeFree |
| Glycogen storage disease type Ia | 0.000271442 | 1 | 0 | BeFree |
| Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
| HYPERALPHALIPOPROTEINEMIA 1 | 0.000271442 | 1 | 0 | BeFree |
| HEPATIC LIPASE DEFICIENCY (disorder) | 0.000271442 | 1 | 0 | BeFree |
| HYDATIDIFORM MOLE, RECURRENT, 1 | 0.000271442 | 1 | 0 | BeFree |
| AORTIC VALVE DISEASE 2 | 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。