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This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
[中文简述(自动翻译):]  该基因编码属于载脂蛋白基因家族的脂质结合蛋白。该蛋白在血浆中,其中它是极低密度脂蛋白的组分分泌。这种蛋白激活酶脂蛋白脂肪酶,它水解甘油三酯和因此提供游离脂肪酸的细胞。突变该基因引起血症IB型,其特点是高甘油三酯血症,黄瘤和胰腺炎和早期动脉粥样硬化的危险性增加。这种基因存在于与染色体19上的其他相关的载脂蛋白基因簇的天然存在的这种基因与相邻上游载脂蛋白C-IV(APOC4)基因之间存在通读转录。 [由RefSeq的,2011年3月提供]
APOC2基因(以及对应的蛋白质)的细胞分布位置:
APOC2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Apolipoprotein C-II Deficiency (disorder) | 0.241085767 | 5 | 0 | BeFree_CLINVAR_UNIPROT |
Hyperlipoproteinemia Type I | 0.121900093 | 7 | 0 | BeFree_CTD_human |
Drug Eruptions | 0.12 | 1 | 0 | CTD_human |
Liver Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
Familial apolipoprotein C-II deficiency | 0.12 | 0 | 0 | ORPHANET |
Coronary heart disease | 0.00973957 | 4 | 2 | BeFree_GAD |
Hypertriglyceridemia | 0.007815732 | 3 | 0 | GAD_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.007372538 | 3 | 0 | BeFree_GAD |
Myotonic Dystrophy | 0.007057489 | 26 | 0 | BeFree |
Congenital Myotonic Dystrophy | 0.006514605 | 24 | 0 | BeFree |
Hyperlipidemia | 0.005005506 | 3 | 0 | BeFree_GAD |
Coronary Artery Disease | 0.004734064 | 2 | 0 | GAD |
Pancreatitis | 0.003181358 | 3 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Atherosclerosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Cardiovascular Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Hyperlipoproteinemia Type III | 0.002638474 | 1 | 0 | BeFree_GAD |
Multiple Sclerosis | 0.002638474 | 1 | 0 | BeFree_GAD |
Hepatitis C | 0.002367032 | 1 | 0 | GAD |
Steatorrhea | 0.002367032 | 1 | 0 | GAD |
Hypertriglyceridemia result | 0.002367032 | 1 | 0 | GAD |
Adenomatous Polyposis Coli | 0.001357209 | 5 | 0 | BeFree |
Pancreatitis, Chronic | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Hypercholesterolemia, Familial | 0.000271442 | 1 | 0 | BeFree |
Hyperlipoproteinemias | 0.000271442 | 1 | 0 | BeFree |
Hypobetalipoproteinemias | 0.000271442 | 1 | 0 | BeFree |
insulinoma | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
myotonic muscular dystrophy | 0.000271442 | 1 | 0 | BeFree |
Dyslipidemias | 0.000271442 | 1 | 0 | BeFree |
Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
Xanthoma | 0.000271442 | 1 | 0 | BeFree |
Alzheimer Disease, Late Onset | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Mild cognitive disorder | 0.000271442 | 1 | 0 | BeFree |
Chylomicronemia syndrome | 0.000271442 | 1 | 0 | BeFree |
Deficiency of triacylglycerol lipase | 0.000271442 | 1 | 0 | BeFree |
Familial hypobetalipoproteinemia | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Familial hyperchylomicronemia syndrome | 0.000271442 | 1 | 0 | BeFree |
Insulin resistance syndrome | 0.000271442 | 1 | 0 | BeFree |
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