Barthelson Karissa, Newman Morgan, Lardelli Michael
School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.
J Alzheimers Dis Rep. 2020 May 2;4(1):123-140. doi: 10.3233/ADR-200177.
encodes a large, multi-domain containing, membrane-bound receptor involved in endosomal sorting of proteins between the trans-Golgi network, endosomes and the plasma membrane. It is genetically associated with Alzheimer's disease (AD), the most common form of dementia. is a unique gene in AD, as it appears to show strong associations with the common, late-onset, sporadic form of AD and the rare, early-onset familial form of AD. Here, we review the genetics of in AD and discuss potential roles it could play in AD pathogenesis.
编码一种大型的、包含多个结构域的膜结合受体，该受体参与蛋白质在反式高尔基体网络、内体和质膜之间的内体分选。它在基因上与阿尔茨海默病（AD）相关，AD是最常见的痴呆形式。在AD中是一个独特的基因，因为它似乎与常见的、晚发性、散发性AD形式以及罕见的、早发性家族性AD形式都有很强的关联。在这里，我们综述了AD中该基因的遗传学，并讨论了它在AD发病机制中可能发挥的潜在作用。
