视黄醇脱氢酶12（RDH12）是一种可导致莱伯先天性黑矇的视黄醇脱氢酶，它也参与类固醇代谢。
RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.
作者信息
Keller Brigitte, Adamski Jerzy
机构信息
GSF-National Research Center for Environment and Health, Institute of Experimental Genetics, Genome Analysis Center, Ingolstaedter Landstr. 1, 85764 Neuherberg, Germany.
出版信息
J Steroid Biochem Mol Biol. 2007 May;104(3-5):190-4. doi: 10.1016/j.jsbmb.2007.03.015. Epub 2007 Mar 23.
Three retinol dehydrogenases (RDHs) were tested for steroid converting abilities: human and murine RDH 12 and human RDH13. RDH12 is involved in retinal degeneration in Leber's congenital amaurosis (LCA). We show that murine Rdh12 and human RDH13 do not reveal activity towards the checked steroids, but that human type 12 RDH reduces dihydrotestosterone to androstanediol, and is thus also involved in steroid metabolism. Furthermore, we analyzed both expression and subcellular localization of these enzymes.
对三种视黄醇脱氢酶（RDH）进行了类固醇转化能力测试：人类和小鼠的RDH 12以及人类的RDH13。RDH12参与了莱伯先天性黑矇（LCA）中的视网膜变性。我们发现，小鼠的Rdh12和人类的RDH13对所检测的类固醇没有活性，但人类12型RDH可将二氢睾酮还原为雄烷二醇，因此也参与类固醇代谢。此外，我们分析了这些酶的表达和亚细胞定位。
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