MCOLN3 - mucolipin TRP cation channel 3 Gene

中文名称：粘脂蛋白 TRP 阳离子通道 3

种属: Homo sapiens

同用名: TRPML3; TRP-ML3

关于 MCOLN3

功能概要

该基因编码粘脂蛋白阳离子通道蛋白的成员之一。对小鼠高度相似蛋白的突变研究表明，该蛋白存在于耳蜗毛细胞中，突变小鼠表现出早发性听力损失和平衡问题。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2011 年 11 月]

This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]