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This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码细胞外胆固醇酯化酶,卵磷脂胆固醇酰基转移酶。胆甾醇的酯化是必需的胆固醇运输。已发现该基因的突变导致鱼眼疾病以及LCAT缺乏。 [由RefSeq的,2008年7月提供]
LCAT基因(以及对应的蛋白质)的细胞分布位置:
LCAT基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Lecithin Acyltransferase Deficiency | 0.572420313 | 36 | 12 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Fish-Eye Disease | 0.446710102 | 21 | 5 | BeFree_CLINVAR_GAD_MGD_ORPHANET_UNIPROT |
Hyperlipidemia | 0.085091382 | 3 | 0 | GAD_LHGDN_RGD |
Kidney Failure, Chronic | 0.080542884 | 3 | 0 | BeFree_RGD |
Myocardial Infarction | 0.08 | 1 | 0 | RGD |
Atherosclerosis | 0.010801593 | 14 | 0 | BeFree_GAD_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.007101096 | 3 | 0 | GAD |
Coronary Arteriosclerosis | 0.005276948 | 3 | 0 | BeFree_GAD |
Dyslipidemias | 0.005276948 | 4 | 0 | BeFree_GAD |
Hypoalphalipoproteinemias | 0.004734064 | 2 | 0 | GAD |
Coronary Artery Disease | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Arteriosclerosis | 0.002985861 | 11 | 0 | BeFree |
Coronary heart disease | 0.002909916 | 3 | 0 | BeFree_GAD |
Cerebral Infarction | 0.00272435 | 1 | 0 | LHGDN |
Lipid Metabolism Disorders | 0.002638474 | 2 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Hypertriglyceridemia | 0.002367032 | 1 | 0 | GAD |
Inflammation | 0.002367032 | 1 | 0 | GAD |
Insulin Resistance | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
Dementia | 0.002367032 | 1 | 0 | GAD |
Hypertriglyceridemia result | 0.002367032 | 1 | 0 | GAD |
Kidney Failure | 0.000814326 | 3 | 0 | BeFree |
Cardiovascular Diseases | 0.000542884 | 2 | 0 | BeFree |
Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Hyperlipoproteinemia Type I | 0.000542884 | 2 | 0 | BeFree |
Obesity | 0.000542884 | 2 | 0 | BeFree |
Cholesteryl Ester Transfer Protein Deficiency | 0.000542884 | 2 | 0 | BeFree |
Hypoalphalipoproteinemia, Familial | 0.000542884 | 2 | 0 | BeFree |
Hyperlipoproteinemias | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Inborn Errors of Metabolism | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis of aorta | 0.000271442 | 1 | 0 | BeFree |
Hdl Deficiency, Type 2 | 0.000271442 | 1 | 0 | BeFree |
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