ADH6(酒精脱氢酶6)属于ADH基因家族,该家族共有7个成员(ADH1-ADH7),编码的酶主要参与乙醇代谢,将乙醇转化为乙醛。ADH6主要在肝脏和胃中表达,具有较高的乙醇氧化能力,但其底物特异性较广,还能代谢其他醇类(如视黄醇)和类固醇激素。ADH6的酶活性受pH影响较大,在酸性环境下活性更强,因此在胃酸环境中可能对摄入的乙醇进行首过代谢。该基因突变可能导致酶活性改变,影响酒精代谢效率,与酒精依赖症或酒精性肝病风险相关。ADH6过表达可能增强酒精代谢能力,减少乙醇毒性,但可能增加乙醛积累(乙醛是致癌物);表达降低则可能导致酒精代谢减慢,延长酒精在体内的作用时间。ADH基因家族的共性在于它们都编码依赖NAD+的脱氢酶,具有相似的蛋白结构(通常为二聚体),参与醇类代谢,但各成员的组织分布和底物偏好不同。ADH6与某些癌症(如食道癌、肝癌)的关联可能与其影响乙醛水平和氧化应激有关。此外,ADH6在视黄酸代谢中的作用可能影响细胞分化和发育过程。
This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
这个基因编码V类醇脱氢酶,它是醇脱氢酶家族的一个成员。这个家族的成员代谢多种基底,包括乙醇,视黄醇,其它脂族醇,hydroxysteroids和脂质过氧化产物的。该基因在胃内以及在肝中表达,并且它包含5‘非编码区,其是类固醇激素受体结合位点的上游的糖皮质激素反应元件。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2008年7月提供]
ADH6基因(以及对应的蛋白质)的细胞分布位置:
ADH6基因的本体(GO)信息:
名称 |
---|
10 Glycolysis / Gluconeogenesis [PATH:hsa00010] |
71 Fatty acid degradation [PATH:hsa00071] |
350 Tyrosine metabolism [PATH:hsa00350] |
830 Retinol metabolism [PATH:hsa00830] |
980 Metabolism of xenobiotics by cytochrome P450 [PATH:hsa00980] |
982 Drug metabolism - cytochrome P450 [PATH:hsa00982] |
5204 Chemical carcinogenesis [PATH:hsa05204] |
名称 |
---|
Biological oxidations |
Ethanol oxidation |
Metabolism |
Phase 1 - Functionalization of compounds |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Drug Dependence | 0.002638474 | 1 | 0 | BeFree_GAD |
Alcoholic Intoxication, Chronic | 0.002638474 | 2 | 0 | BeFree_GAD |
Head and Neck Neoplasms | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of esophagus | 0.002367032 | 1 | 1 | GAD |
Enzyme inhibition disorder | 0.000271442 | 1 | 0 | BeFree |
Substance Dependence | 0.000271442 | 1 | 0 | BeFree |
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