靶标:
CLN3
产品别名:
BTN1; BTS; JNCL; CLN3; CLN3 lysosomal/endosomal transmembrane protein, battenin; CLN3 lysosomal/endosomal transmembrane protein, battenin; battenin; CLN3, battenin; batten disease protein; ceroid-lipofuscinosis, neuronal 3; 神经细胞蜡样质脂褐质沉积病蛋白CLN3;
背景信息:
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008],