Nuffield Department of Clinical Laboratory Science, University of Oxford, Oxford, UK.
FEBS J. 2011 Sep;278(18):3204-14. doi: 10.1111/j.1742-4658.2011.08169.x. Epub 2011 Jun 13.
Mutations to members of the A subfamily of ATP binding cassette (ABC) proteins are responsible for a number of diseases; typically they are associated with aberrant cellular lipid transport processes. Mutations to the ABCA4 protein are linked to a number of visual disorders including Stargardt's disease and retinitis pigmentosa. Over 500 disease-associated mutations in ABCA4 have been demonstrated; however, the genotype-phenotype link has not been firmly established. This shortfall is primarily because the function of ABCA4 in the visual cycle is not yet fully understood. One hypothesis suggests that ABCA4 mediates the trans-bilayer translocation of retinal-phosphatidylethanolamine conjugates to facilitate the retinal regeneration process in the visual cycle. This review examines the evidence to support, or refute, this working hypothesis on the function of this clinically important protein.
A 亚家族的 ATP 结合盒 (ABC) 蛋白成员的突变可导致多种疾病；通常与异常的细胞脂质转运过程有关。ABCA4 蛋白的突变与包括 Stargardt 病和色素性视网膜炎在内的多种视觉障碍有关。已经证明 ABCA4 中有 500 多种与疾病相关的突变；然而，基因型-表型联系尚未得到明确确立。这主要是因为 ABCA4 在视觉周期中的功能尚未完全了解。一种假设表明，ABCA4 介导视网膜 - 磷脂酰乙醇胺轭合物的跨双层易位，以促进视觉周期中的视网膜再生过程。这篇综述检查了支持或反驳该关于这种临床重要蛋白功能的工作假说的证据。
