菜单 基因医生

该基因编码e3连接酶nedd4家族的一个成员，在蛋白质泛素化中起重要作用。编码蛋白包含四个WW结构域，可能通过与Smad蛋白和抑癌基因PTEN的相互作用在软骨形成和癌基因信号通路调控等多个过程中发挥作用另外，该基因的剪接转录变体编码多种亚型，并且该基因的假基因位于10号染色体的长臂上[由RefSeq提供，2012年7月]
This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]