PLP2 - proteolipid protein 2 Gene

中文名称：蛋白脂蛋白 2

种属: Homo sapiens

同用名: A4; A4LSB

关于 PLP2

功能概要

该基因编码一种完整的膜蛋白，定位于结肠上皮细胞的内质网。编码的蛋白质可以多聚化并可以作为离子通道发挥作用。该基因启动子的多态性可能与 X 连锁认知障碍的风险增加有关。在 5 号染色体上发现了该基因的假基因。[RefSeq 提供，2010 年 1 月]

This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked cognitive disability. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010]