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The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome

机译:异常在Conradi-Hünermann-Happle综合征中胆固醇生物合成的远端途径中的作用

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Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata (CP) caused by mutations in one gene of the distal pathway of cholesterol biosynthesis. It exhibits intense phenotypic variation and primarily affects the skin, bones and eyes. The ichthyosis following Blaschko's lines, chondrodysplasia punctata and cataracts are the typical clinical findings. The cardinal biochemical features are an increase in 8(9)-cholestenol and 8-dehydrocholesterol (8DHC), which suggest a deficiency in 3β-hydroxysteroid-Δ8,Δ7-isomerase, also called emopamil binding protein (EBP). The EBP gene is located on the short arm of the X chromosome (Xp11.22-p11.23) and encodes a 230 amino acid protein with dual function. Explaining the clinical phenotype in CDPX2 implies an understanding of both the genetics and biochemical features of this disease. CDPX2 displays an X-linked dominant pattern of inheritance, which is responsible for the distribution of lesions in some tissues. The clinical phenotype in CDPX2 results directly from impairment in cholesterol biosynthesis, and indirectly from abnormalities in the hedgehog signaling protein pathways. This article is part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias.
机译:Conradi-Hünermann-Happle综合征(CDPX2,OMIM 302960)是一种遗传性X连锁点状软骨发育不良(CP),由胆固醇生物合成远侧途径的一个基因突变引起。它表现出强烈的表型变异,主要影响皮肤,骨骼和眼睛。典型的临床表现是遵循Blaschko氏谱的鱼鳞病,点状软骨发育不良和白内障。主要的生化特征是8(9)-胆固醇和8-脱氢胆固醇(8DHC)增加,这表明3β-羟基类固醇-Δ8,Δ7-异构酶(也称为Emopamil结合蛋白(EBP))缺乏。 EBP基因位于X染色体的短臂(Xp11.22-p11.23)上,编码具有双重功能的230个氨基酸的蛋白质。解释CDPX2的临床表型意味着对这种疾病的遗传学和生化特征的了解。 CDPX2显示遗传的X连锁显性模式,该模式负责病变在某些组织中的分布。 CDPX2的临床表型直接来自胆固醇生物合成的损伤,并且间接源自刺猬蛋白信号途径的异常。本文是《脂质在表皮中的重要作用及其在皮肤屏障形成和维持中的作用》一期特刊的一部分。客座编辑:肯尼思·R·费因戈德和彼得·埃里亚斯。

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