Rabbit anti-Human Phospho-MEF2C-S396 Polyclonal Antibody

Uniprot Id

Q06413

Target Species

Human

Target Name

MEF2C

Target Full Name

Myocyte-specific enhancer factor 2C

Target Function

Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture. Isoforms that lack the repressor domain are more active than isoform 1.

Target Involvement

Mental retardation, autosomal dominant 20 (MRD20)

Target Subcellular Location

Nucleus. Cytoplasm, sarcoplasm.

Target Protein Families

MEF2 family

Target Tissue Specificity

Expressed in brain and skeletal muscle.

Target Synonyms

NEDHSIL; DEL5q14.3; C5DELq14.3; Phospho-MEF2C-S396

Target Background

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.