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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.

DOI:10.1016/j.jsbmb.2007.03.015
PMID:17512723
Abstract

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.

摘要

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。

相似文献

1
RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.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。
J Steroid Biochem Mol Biol. 2007 May;104(3-5):190-4. doi: 10.1016/j.jsbmb.2007.03.015. Epub 2007 Mar 23.
2
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.莱伯先天性黑蒙中的视网膜脱氢酶12(RDH12)突变。
Am J Hum Genet. 2004 Oct;75(4):639-46. doi: 10.1086/424889. Epub 2004 Aug 20.
3
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.与RDH12突变相关的视网膜变性是由于视觉循环中断导致11-顺式视黄醛合成减少所致。
Hum Mol Genet. 2005 Dec 15;14(24):3865-75. doi: 10.1093/hmg/ddi411. Epub 2005 Nov 3.
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Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.与莱伯先天性黑蒙和视锥视杆营养不良相关的新型RDH12突变:生化和临床评估
Vision Res. 2007 Jul;47(15):2055-66. doi: 10.1016/j.visres.2007.04.005. Epub 2007 May 21.
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Leber's congenital amaurosis: an update.莱伯先天性黑矇:最新进展
Eur J Paediatr Neurol. 2003;7(1):13-22. doi: 10.1016/s1090-3798(02)00135-6.
6
Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.来自莱伯先天性黑蒙的RPE65两点突变对RPE65稳定性、亚细胞定位及异构水解酶活性的影响
FEBS Lett. 2006 Jul 24;580(17):4200-4. doi: 10.1016/j.febslet.2006.06.078. Epub 2006 Jul 5.
7
[Leber congenital amaurosis: retinol dehydrogenases are the culprit].
Med Sci (Paris). 2004 Dec;20(12):1066-8. doi: 10.1051/medsci/200420121066.
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Redundant and unique roles of retinol dehydrogenases in the mouse retina.视黄醇脱氢酶在小鼠视网膜中的冗余和独特作用。
Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19565-70. doi: 10.1073/pnas.0707477104. Epub 2007 Nov 28.
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[From gene to disease; Leber congenital amaurosis (LCA)].[从基因到疾病;莱伯先天性黑矇(LCA)]
Ned Tijdschr Geneeskd. 2005 Oct 15;149(42):2334-7.
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RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.导致莱伯先天性黑蒙的视循环基因RDH12和RPE65在疾病表现上有所不同。
Invest Ophthalmol Vis Sci. 2007 Jan;48(1):332-8. doi: 10.1167/iovs.06-0599.

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