NOMO1 - NODAL modulator 1 Gene

中文名称：节点调制器 1

种属: Homo sapiens

同用名: PM5; Nomo

关于 NOMO1

功能概要

该基因编码一种最初被认为与胶原酶基因家族有关的蛋白质。该基因是位于 16 号染色体 p 臂上重复区域的三个高度相似基因之一。这三个基因编码可能具有相同功能的密切相关的蛋白质。由其中一个基因编码的蛋白质已被鉴定为参与脊椎动物发育过程中 Nodal 信号通路的蛋白质复合物的一部分。位于附近的 ABCC6 中的突变，而不是该基因中的突变与弹性假黄瘤 (PXE) 相关。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]