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]

Jul 26, 2022 · 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.

Dec 25, 2024 · 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 .

Dec 12, 2024 · 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 ...

Apr 8, 2024 · 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 cell development...

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.

MEF2C promotes precursor cell commitment towards lymphoid rather than myeloid lineages and promotes development towards monocyte rather than granulocyte fates . In B-cells, MEF2C activity is necessary for germinal centre formation [26, 27] and MEF2B and MEF2D are involved in maintaining Epstein-Barr virus latency [28, 29].

Jul 1, 2017 · 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.

What is MEF2C and why does it matter? Myocyte Enhancer Factor 2C (MEF2C) is a gene located on chromosome 5 band 14.3. The MEF2C gene encodes for a type of protein known as a transcription factor. Transcription factors control the activation and deactivation of other genes.

MEF2C belongs to the myocyte enhancer factor-2 (MEF2) family of transcription factors. MEF2C plays a pivotal role in myogenesis, development of the anterior heart field, neural crest and craniofacial development, and neurogenesis, among others (summary by Zweier et al., 2010).