ADH4(Alcohol Dehydrogenase 4)是乙醇脱氢酶家族(ADH基因家族)的成员之一,主要参与酒精代谢过程。该基因家族共有7个成员(ADH1-ADH7),均编码依赖锌离子的酶,能够催化乙醇氧化为乙醛,是酒精代谢的第一步关键反应。ADH4主要在肝脏和胃中表达,其表达产物对酒精的代谢效率较高,尤其在摄入高浓度酒精时发挥重要作用。ADH4的突变可能影响酒精代谢能力,导致酒精耐受性差异或酒精相关疾病(如酒精性肝病)的风险变化。某些人群(如东亚人)携带ADH4的特定变异(如rs1229984),可能导致酒精代谢速率改变,从而影响酗酒倾向或酒精中毒风险。若ADH4过表达,可能加速酒精分解,减少酒精对机体的毒性作用,但也可能导致乙醛积累(若ALDH2基因功能不足),增加致癌风险;若ADH4表达降低,则可能延长酒精在体内的存留时间,加重肝脏负担。此外,ADH4还参与视黄醇(维生素A衍生物)代谢,影响细胞分化和发育。该基因与口腔癌、食道癌等酒精相关癌症存在关联,其多态性也被研究用于评估个体酒精依赖的遗传易感性。ADH基因家族的共性在于其蛋白结构高度保守,均含有锌离子结合位点和NAD+辅因子结合域,但各成员的组织分布和底物特异性存在差异,共同构成复杂的酒精代谢网络。
This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]
这个基因编码的II类醇脱氢酶4丕亚基,它是醇脱氢酶家族的一个成员。这种酶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。 II类乙醇脱氢酶是一个2丕组成亚基二聚体。它表现出对长链脂族醇和芳族醇的氧化具有高活性,对吡唑不太敏感。这个基因的醇脱氢酶的基因群集中定位于4号染色体。 [由RefSeq的,2008年7月提供]
ADH4基因(以及对应的蛋白质)的细胞分布位置:
ADH4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 |
RA biosynthesis pathway |
Signal Transduction |
Signaling by Retinoic Acid |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Malignant neoplasm of esophagus | 0.120271442 | 2 | 1 | BeFree_GWASCAT |
Liver Cirrhosis, Experimental | 0.12 | 1 | 0 | CTD_human |
Alcoholic Intoxication, Chronic | 0.015092462 | 15 | 1 | BeFree_GAD |
Alcohol abuse | 0.005005506 | 3 | 0 | BeFree_GAD |
Drug Dependence | 0.002909916 | 2 | 0 | BeFree_GAD |
Flushing | 0.002638474 | 2 | 0 | BeFree_GAD |
Deafness | 0.002367032 | 1 | 0 | GAD |
hearing impairment | 0.002367032 | 1 | 0 | GAD |
Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
Personality Traits | 0.002367032 | 1 | 0 | GAD |
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