NIPSNAP1 - nipsnap homolog 1 Gene

中文名称：nipsnap 同系物 1

种属: Homo sapiens

关于 NIPSNAP1

功能概要

该基因编码可能参与水泡运输的 NipSnap 蛋白家族成员。小鼠中的一种类似蛋白质会抑制钙通道 TRPV6，并且也定位于线粒体内膜，在那里它可能在线粒体 DNA 维护中发挥作用。该基因的一个假基因位于 17 号染色体的短臂上。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 2 月]

This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the Calcium Channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]