MEF2C

Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a is_associated_with::protein that in humans is encoded by the MEF2C is_associated_with::gene. MEF2C is a is_associated_with::transcription factor in the is_associated_with::Mef2 family.

Genomics
The gene is located at 5q14.3 on the minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kiloDaltons. Three isoforms have been identified. Several post translational modifications have been identified including phosphorylation on is_associated_with::serine-59 and serine-396, sumoylation on is_associated_with::lysine-391, acetylation on lysine-4 and proteolytic cleavage.

Interactions
MEF2C has been shown to interact with:


 * is_associated_with::EP300,
 * is_associated_with::HDAC4, is_associated_with::HDAC7, is_associated_with::HDAC9,
 * is_associated_with::MAPK7,
 * is_associated_with::SOX18
 * SP1, and
 * is_associated_with::TEAD1.

Biological significance
This gene is involved in cardiac morphogenesis and myogenesis and vascular development. It may also be involved in neurogenesis and in the development of cortical architecture. Mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the is_associated_with::heart and vascular system. It is one of the targets of an oncomiR, is_associated_with::MIRN21.

In humans mutations of this gene have resulted in severe psychomotor retardation, periodic tremor and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features, mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes