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機能
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. 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 (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.
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組織特異性
Expressed in brain and skeletal muscle.
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関連疾患
Defects in MEF2C are the cause of mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) [MIM:613443]. It is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures.
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配列類似性
Belongs to the MEF2 family.
Contains 1 MADS-box domain.
Contains 1 Mef2-type DNA-binding domain.
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発生段階
Expression is highest during the early stages of postnatal development, at later stages levels greatly decrease.
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ドメイン
The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.
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翻訳後修飾
Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity.
Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation.
Sumoylated on Lys-391 by SUMO2 but not by SUMO1 represses transcriptional activity.
Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.
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細胞内局在
Nucleus.
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Information by UniProt
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参照データベース
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別名
- C5DELq14.3 antibody
- DEL5q14.3 antibody
- MADS box transcription enhancer factor 2 polypeptide C (myocyte enhancer factor 2C) antibody
- MADS box transcription enhancer factor 2, polypeptide C antibody
- MEF2C antibody
- MEF2C_HUMAN antibody
- Myocyte enhancer factor 2C antibody
- Myocyte specific enhancer factor 2C antibody
- Myocyte-specific enhancer factor 2C antibody
- OTTHUMP00000222409 antibody
- Similar to MADS box transcription enhancer factor 2 polypeptide C antibody
see all