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MEF2C
Anti-MEF2C Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
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]
Protein class
Disease related genes, Human disease related genes, Transcription factors
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Inhibitory neurons, Excitatory neurons, Microglial cells, B-cells)
Immune cell specificity
Group enriched (naive B-cell, memory B-cell, plasmacytoid DC, myeloid DC, intermediate monocyte, classical monocyte, non-classical monocyte)
Cell line specificity
Cell line enhanced (Daudi, HEL, Karpas-707, REH, WM-115)
Interaction
Forms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are released into the cytoplasm allowing MEF2s to interact with other proteins for activation. Interacts with EP300 in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation (By similarity). Interacts with HDAC7 and CARM1 (By similarity). Interacts with HDAC4 and HDAC9; the interaction with HDACs represses transcriptional activity (PubMed:10523670, PubMed:11535832). Interacts with LPIN1. Interacts with MYOCD. Interacts with AKAP13 (By similarity). Interacts with FOXK1; the interaction inhibits MEF2C transactivation activity (By similarity). Interacts (via N-terminus) with HABP4; this interaction decreases DNA-binding activity of MEF2C in myocardial cells in response to mechanical stress (PubMed:15862299). Interacts with JPH2; interaction specifically takes place with the Junctophilin-2 N-terminal fragment cleavage product of JPH2 (By similarity). Interacts (via MADS box) with SOX18 (By similarity).
Molecular function
Activator, Developmental protein, DNA-binding
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