菜单 基因医生

该位点编码mads-box转录增强因子2（mef2）家族的一个成员，该家族在肌肉发生中起作用。编码蛋白mef2多肽c具有反式激活和dna结合活性。这种蛋白质可能在维持肌肉细胞的分化状态中发挥作用。该位点的突变和缺失与严重的认知功能障碍、刻板运动、癫痫和脑畸形有关。另外，已经描述了剪接转录变体。[由RefSeq提供，2010年7月]
This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]