SIM2 - SIM bHLH transcription factor 2 Gene

中文名称：SIM bHLH 转录因子 2

种属: Homo sapiens

同用名: SIM; bHLHe15; HMC13F06; HMC29C01

关于 SIM2

功能概要

该基因代表了果蝇一心一意 (sim) 基因的同系物，该基因编码的转录因子是神经发生的主要调节因子。编码的蛋白质被 RING-IBR-RING 型 E3 泛素连接酶泛素化，包括 parkin RBR E3 泛素蛋白连接酶。该基因位于所谓的唐氏综合症染色体区域内，因此被认为与某些特定的唐氏综合症表型有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2014 年 9 月]

This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein Ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]