The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
复制标题
感光体ABC转运蛋白ABCA4在脂质转运和Stargardt黄斑变性中的作用。
DOI：
10.1016/j.bbalip.2009.02.004
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发表时间：
2009-07
影响因子：
4.8
通讯作者：
Quazi, Faraz
中科院分区：
文献类型：
--
作者：
Molday, Robert S.;Zhong, Ming;Quazi, Faraz
关键词：
ABCA 4是ATP结合盒（ABC）转运蛋白的ABCA亚家族的成员，其在脊椎动物视网膜的视杆和视锥光感受器中表达。ABCA 4，也称为Rim蛋白和ABCR，是一种大的2273个氨基酸的糖蛋白，其组织为两个串联的半部分，每个半部分含有单个跨膜区段，随后依次是大的胞外域、多跨膜结构域和核苷酸结合结构域。编码ABCA 4的基因中的超过500个突变与一系列相关的常染色体隐性视网膜变性疾病相关，包括Stargardt黄斑变性、视锥-视杆营养不良和视网膜色素变性的子集。对纯化的ABCA 4的生化研究以及对abca 4敲除小鼠和Stargardt病患者的分析表明，ABCA 4是一种亚视黄醇-磷脂酰乙醇胺转运蛋白，有助于在光激发后从光感受器中去除潜在的反应性视网膜衍生物。ABCA 4相关视网膜变性疾病的遗传和分子基础的知识正在被用于开发这组疾病的合理治疗方法。
ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC) transporters that is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as the Rim protein and ABCR, is a large 2273 amino acid glycoprotein organized as two tandem halves, each containing a single membrane spanning segment followed sequentially by a large exocytoplasmic domain, a multispanning membrane domain and a nucleotide binding domain. Over 500 mutations in the gene encoding ABCA4 are associated with a spectrum of related autosomal recessive retinal degenerative diseases including Stargardt macular degeneration, cone-rod dystrophy and a subset of retinitis pigmentosa. Biochemical studies on the purified ABCA4 together with analysis of abca4 knockout mice and patients with Stargardt disease have implicated ABCA4 as a retinylidene-phosphatidylethanolamine transporter that facilitates the removal of potentially reactive retinal derivatives from photoreceptors following photoexcitation. Knowledge of the genetic and molecular basis for ABCA4 related retinal degenerative diseases is being used to develop rationale therapeutic treatments for this set of disorders.
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