APOB (apolipoprotein B)
- symbol:
- APOB
- locus group:
- protein-coding gene
- location:
- 2p24.1
- gene_family:
- Apolipoproteins
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 338
- ensembl gene id:
- ENSG00000084674
- ucsc gene id:
- uc002red.3
- refseq accession:
- NM_000384
- hgnc_id:
- HGNC:603
- approved reserved:
- 2001-06-22
APOB（载脂蛋白B）基因编码两种主要蛋白亚型：APOB-100和APOB-48，它们通过RNA编辑产生。APOB-100主要在肝脏合成，是低密度脂蛋白（LDL）的核心成分，负责运输胆固醇至外周组织；APOB-48由小肠产生，参与乳糜微粒的形成以运输膳食脂质。APOB基因突变可导致家族性低β脂蛋白血症（表现为低胆固醇）或家族性高胆固醇血症（增加心血管疾病风险）。APOB属于载脂蛋白基因家族，该家族成员均参与脂质运输与代谢调控。APOB过表达会升高LDL水平，促进动脉粥样硬化；表达不足则导致脂质吸收障碍和脂肪溶性维生素缺乏。该基因的某些突变（如R3500Q）会降低LDL受体结合能力，显著增加冠心病风险。APOB-100的受体结合区域突变直接影响LDL清除效率，而APOB-48的编辑异常则影响肠道脂质吸收。此外，APOB表达水平还受PPARγ等核受体调控，与代谢综合征密切相关。
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]
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]
基因本体信息
APOB基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
APOB基因的本体（GO）信息：
| 名称 |
|---|
| 4975 Fat digestion and absorption [PATH:hsa04975] |
| 4977 Vitamin digestion and absorption [PATH:hsa04977] |
| 名称 |
|---|
| Binding and Uptake of Ligands by Scavenger Receptors |
| Cell surface interactions at the vascular wall |
| Chylomicron-mediated lipid transport |
| Hemostasis |
| LDL-mediated lipid transport |
| Lipid digestion, mobilization, and transport |
| Lipoprotein metabolism |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Platelet homeostasis |
| Platelet sensitization by LDL |
| Retinoid metabolism and transport |
| Scavenging by Class A Receptors |
| Scavenging by Class B Receptors |
| Scavenging by Class F Receptors |
| Scavenging by Class H Receptors |
| Signal Transduction |
| Vesicle-mediated transport |
| Visual phototransduction |
| 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 |
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