MEF2D Antibody – Mouse Monoclonal

This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

MEF2D: transcription factor which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. May be involved in muscle-specific and/or growth factor-related transcription. Six splice-variant isoforms have been described.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 1q12-q23

Cellular Component: nucleoplasm; intracellular membrane-bound organelle; nucleus

Molecular Function: protein dimerization activity; protein binding; transcription activator binding; histone deacetylase binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; adult heart development; osteoblast differentiation; nervous system development; muscle development; apoptosis; chondrocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; endochondral ossification