基因名：
CLN6
产品别名：
CLN4A； CLN6A； HsT18960； nclf； CLN6； CLN6 transmembrane ER protein； CLN6 transmembrane ER protein； ceroid-lipofuscinosis neuronal protein 6； ceroid-lipofuscinosis neuronal 6 late infantile； ceroid-lipofuscinosis, neuronal 6, late infantile； 神经细胞蜡样质脂褐质沉积病蛋白CLN6；
背景信息：
CLN6, a 311 amino acid protein, has seven predicted transmembrane domains and is conserved across vertebrates. The CLN6 protein localizes to the endoplasmic reticulum but contributes to lysosomal function. Mutations in the CLN6 gene cause variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL), a lysosomal storage disorder marked by progressive mental deterioration and blindness; part of a group of severe inherited neurodegenerative disorders affecting children wherein lysosomes accumulate storage material, causing the death of neurons. CLN6 is one of eight proteins, including CLN1-8, that are associated with NCL.
