CYP2C8 (cytochrome P450 family 2 subfamily C member 8)
- symbol:
- CYP2C8
- locus group:
- protein-coding gene
- location:
- 10q23.33
- gene_family:
- Cytochrome P450s
- alias symbol:
- CPC8
- alias name:
- None
- entrez id:
- 1558
- ensembl gene id:
- ENSG00000138115
- ucsc gene id:
- uc001kkb.4
- refseq accession:
- NM_000770
- hgnc_id:
- HGNC:2622
- approved reserved:
- 1991-07-31
CYP2C8属于细胞色素P450（CYP450）基因家族，该家族是一组编码肝脏代谢酶的基因，主要负责药物、毒素和内源性物质的氧化代谢。CYP2C8基因位于人类10号染色体上，编码的CYP2C8蛋白主要在肝脏和小肠中表达，参与多种药物的代谢，包括抗糖尿病药物（如罗格列酮）、抗疟药（如阿莫地喹）以及抗癌药物（如紫杉醇）。CYP2C8还参与花生四烯酸的代谢，生成具有生物活性的环氧二十碳三烯酸（EETs），这些代谢产物在血管舒张和抗炎过程中发挥重要作用。CYP2C8基因的突变可能导致酶活性降低或丧失，从而影响药物的代谢速率，导致药物在体内积累或疗效降低。例如，CYP2C8*3等位基因与紫杉醇代谢减慢相关，可能增加药物毒性风险。此外，CYP2C8功能异常还与某些疾病有关，如糖尿病和心血管疾病，因为其代谢产物EETs在这些疾病的病理生理过程中起调节作用。如果CYP2C8过表达，可能加速某些药物的代谢，导致药物疗效降低；而表达降低则可能延长药物作用时间或增加毒性风险。CYP2C8与其他CYP450家族成员（如CYP2C9、CYP2C19）具有高度同源性，这些基因通常共享相似的底物特异性，但在代谢效率和选择性上存在差异。CYP450基因家族的共性包括依赖血红素辅基、参与氧化反应以及在药物代谢和解毒中的核心作用。了解CYP2C8的遗传变异和表达水平对个体化用药和疾病风险评估具有重要意义。
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
该基因编码的酶的细胞色素P450超家族的成员。细胞色素P450蛋白是能催化涉及药物代谢和胆固醇，类固醇和其他脂类的合成许多反应单加氧酶。此蛋白质定位于内质网和它的表达是由苯巴比妥诱导。酶是已知的代谢许多外源物，包括抗惊厥药美芬妥英，苯并（a）芘，7- ethyoxycoumarin，和抗癌药物紫杉醇。该基因位于细胞色素P450基因在染色体10q24群集内。已发现该基因编码几个不同的亚型几个抄本变形。 [由RefSeq的，2010年11月提供]
基因本体信息
CYP2C8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
CYP2C8基因的本体（GO）信息：
| 名称 |
|---|
| 590 Arachidonic acid metabolism [PATH:hsa00590] |
| 591 Linoleic acid metabolism [PATH:hsa00591] |
| 830 Retinol metabolism [PATH:hsa00830] |
| 982 Drug metabolism - cytochrome P450 [PATH:hsa00982] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 5204 Chemical carcinogenesis [PATH:hsa05204] |
| 名称 |
|---|
| Arachidonic acid metabolism |
| Biological oxidations |
| CYP2E1 reactions |
| Cytochrome P450 - arranged by substrate type |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Phase 1 - Functionalization of compounds |
| Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) |
| Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) |
| Xenobiotics |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Kidney Diseases | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Rhabdomyolysis | 0.12 | 1 | 0 | CTD_human |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.12 | 1 | 0 | CTD_human |
| nervous system disorder | 0.12 | 1 | 0 | CTD_human |
| Rhabdomyolysis, Cerivastatin-Induced | 0.12 | 0 | 0 | CLINVAR |
| Liver Neoplasms, Experimental | 0.08 | 1 | 0 | CTD_mouse |
| Malaria, Falciparum | 0.012106602 | 6 | 0 | BeFree_GAD |
| Coronary heart disease | 0.005634266 | 3 | 0 | BeFree_GAD_LHGDN |
| Myocardial Infarction | 0.00554839 | 3 | 0 | BeFree_GAD |
| Hypertensive disease | 0.00554839 | 3 | 0 | BeFree_GAD |
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