Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a protein that in humans is encoded by the MEF2C gene. [4][5] MEF2C is a transcription factor in the Mef2 family. [6][7] The gene is located at 5q14.3 on the minus (Crick) strand and is 200,723 bases in length.

2024年12月25日 · MEF2C (Myocyte Enhancer Factor 2C) is a Protein Coding gene. Diseases associated with MEF2C include Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language and 5Q14.3 Microdeletion Syndrome .

MEF2家族蛋白包括MEF2A、B、C、D，共享一个类似的N-末端，含有一个高度保守的MADS-box结构域和一个紧邻MEF2域。 MADS-box和MEF2域分别有55个和29个氨基酸，有助于DNA结合和二聚化。 在MEF2蛋白C-末端的反式激活域结构具有多样性。 MEF2B是其中最简单的蛋白。 MEF2A、C和D含有多种氨基酸和磷酸化的潜力。 MEF2的生理功能和信号转导通路. MEF2家族主要与各种生理过程相关，包括肌肉的形成、神经系统发育、心脏发育等。 它们也涉及人类疾 …

2022年7月26日 · MEF2C deficiency is an extremely rare genetic disorder caused by a change (mutation) in the MEF2C gene. This mutation, often a deletion, leads to the dysfunction of MEF2C protein which is essential to the proper functioning of the musculoskeletal, cardiovascular, neurological, craniofacial, and immune systems.

2024年12月12日 · MEF2C encodes myocyte-specific enhancer factor 2C (MEF2C), a member of the MADS family of transcription factors, which regulate hundreds of downstream gene targets during development and adulthood. MEF2C is particularly crucial during embryogenesis, as it plays a role in myogenesis, neural crest formation, anterior heart field development ...

2024年4月8日 · We identify myocyte enhancer factor 2C (MEF2C) as a master regulator of human NK cell functionality ex vivo. MEF2C-haploinsufficient patients and mice displayed defects in NK...

Gene ID: 4208, updated on 8-Feb-2025. 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.

2017年7月1日 · Myocyte enhancer factor 2C (MEF2C) is a transcription factor of MADS box family involved in the early development of several human cells including muscle (i.e., skeletal, cardiac, and smooth), neural, chondroid, immune, and endothelial cells. Dysfunction of MEF2C leads to embryo hypoplasia, disorganized myofibers and perinatal lethality.

该基因座编码 MADS 盒转录增强因子 2 (MEF2) 蛋白家族的成员，该蛋白在肌生成中发挥作用。 编码的蛋白质 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障碍、刻板运动、癫痫和脑畸形有关。 已经描述了选择性剪接的转录物变体。 [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 …

2022年2月22日 · Here, we show that myocyte enhancer factor 2 C (MEF2C) is essential for regulating M1 macrophage polarization in response to infection and inflammation. Global gene expression analysis...