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This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
[中文简述(自动翻译):]  该基因编码的枯草杆菌蛋白酶类前蛋白转化家族,其包括投放通过分泌途径的调控型或组成分支过程的蛋白质和肽的前体蛋白酶的成员。所编码的蛋白质经历与其prosegment自催化处理事件中的ER和组成性分泌为无活性蛋白酶到细胞外基质和反式高尔基网络。它是在肝,肠,肾组织中表达和接引溶酶体降解特定受体。它在胆固醇和脂肪酸代谢中的作用。在这种基因突变与常染色体显性家族性高胆固醇有关。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年2月提供]
PCSK9基因(以及对应的蛋白质)的细胞分布位置:
PCSK9基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 | 0.36 | 3 | 3 | CLINVAR_CTD_human_UNIPROT |
Hypercholesterolemia, Familial | 0.162633694 | 76 | 7 | BeFree_CLINVAR_GAD_LHGDN |
Hypercholesterolemia | 0.162405859 | 55 | 5 | BeFree_CTD_human_GAD_LHGDN |
Coronary Artery Disease | 0.130358398 | 15 | 2 | BeFree_CTD_human_GAD |
Nephroblastoma | 0.12 | 1 | 1 | GWASCAT |
Coronary heart disease | 0.025145743 | 43 | 9 | BeFree_GAD_LHGDN |
Myocardial Infarction | 0.013006804 | 7 | 0 | BeFree_GAD_LHGDN |
Cardiovascular Diseases | 0.012072926 | 20 | 1 | BeFree_GAD_LHGDN |
Atherosclerosis | 0.011530042 | 16 | 4 | BeFree_GAD_LHGDN |
Cerebrovascular accident | 0.01036833 | 4 | 0 | BeFree_GAD_LHGDN |
Coronary Arteriosclerosis | 0.009967404 | 28 | 2 | BeFree_GAD |
Hyperlipoproteinemia Type IIa | 0.009229024 | 34 | 1 | BeFree |
Dyslipidemias | 0.005981653 | 13 | 0 | BeFree_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.005276948 | 4 | 0 | BeFree_GAD |
Arteriosclerosis | 0.003800186 | 14 | 4 | BeFree |
Acute Coronary Syndrome | 0.002909916 | 3 | 0 | BeFree_GAD |
Peripheral Vascular Diseases | 0.002638474 | 1 | 0 | BeFree_GAD |
Myocardial Ischemia | 0.002638474 | 1 | 1 | BeFree_GAD |
Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
Narcolepsy | 0.002367032 | 1 | 0 | GAD |
Dementia | 0.002367032 | 1 | 0 | GAD |
Hypobetalipoproteinemias | 0.001357209 | 5 | 0 | BeFree |
Familial hypobetalipoproteinemia | 0.001085767 | 4 | 0 | BeFree |
Hyperlipidemia | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Ischemic stroke | 0.000814326 | 3 | 1 | BeFree |
Ischemic Cerebrovascular Accident | 0.000814326 | 3 | 1 | BeFree |
Adenoma | 0.000542884 | 2 | 0 | BeFree |
Hyperlipidemia, Familial Combined | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Vascular Diseases | 0.000542884 | 2 | 4 | BeFree |
Polygenic hypercholesterolemia | 0.000542884 | 2 | 1 | BeFree |
Hyperlipoproteinemia Type IIb | 0.000542884 | 2 | 0 | BeFree |
Hyperaldosteronism, Familial, Type II | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Abetalipoproteinemia | 0.000271442 | 1 | 0 | BeFree |
Cholelithiasis | 0.000271442 | 1 | 0 | BeFree |
Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Peritonitis | 0.000271442 | 1 | 0 | BeFree |
Pseudoxanthoma Elasticum | 0.000271442 | 1 | 0 | BeFree |
Xanthomatosis | 0.000271442 | 1 | 0 | BeFree |
Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
Xanthoma | 0.000271442 | 1 | 1 | BeFree |
Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Overweight | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C, Chronic | 0.000271442 | 1 | 0 | BeFree |
Carotid Atherosclerosis | 0.000271442 | 1 | 1 | BeFree |
Intracranial Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Aortic calcification | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular morbidity | 0.000271442 | 1 | 0 | BeFree |
Peripheral Arterial Diseases | 0.000271442 | 1 | 0 | BeFree |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | 0.000271442 | 1 | 0 | BeFree |
Arteriosclerotic cardiovascular disease, NOS | 0.000271442 | 1 | 0 | BeFree |
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