Rakheja Dinesh, Narayan Srinivas B, Pastor Johanne V, Bennett Michael J
Department of Pathology, Children's Medical Center of Dallas and the University of Texas Southwestern Medical Center, Dallas, TX, USA.
Biochem Biophys Res Commun. 2004 May 14;317(4):988-91. doi: 10.1016/j.bbrc.2004.03.146.
Juvenile neuronal ceroid lipofuscinosis is an inherited pediatric neurodegenerative disorder, which occurs as a result of mutations in the CLN3 gene that is located on chromosome 16p12.1. The encoded protein, CLN3P, is a putative transmembrane protein with no known function. In this study, we demonstrate that CLN3P resides on membrane lipid raft domains (detergent-resistant membranes) and provide important new data towards possible functions of the protein.
青少年神经元蜡样脂褐质沉积症是一种遗传性儿童神经退行性疾病,它是由位于16号染色体p12.1上的CLN3基因突变引起的。编码的蛋白CLN3P是一种功能未知的假定跨膜蛋白。在本研究中,我们证明CLN3P定位于膜脂筏结构域(抗去污剂膜),并为该蛋白可能的功能提供了重要的新数据。