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NEDHSIL

Chr 5AD

myocyte enhancer factor 2C

Also known as: C5DELq14.3, DEL5q14.3, NEDHSIL

NCBI Gene: 4208 OMIM: 613443

This gene encodes MEF2C, a transcription factor with DNA binding and trans-activating activities that maintains the differentiated state of muscle cells and plays a role in myogenesis. Mutations cause a neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language, or the broader chromosome 5q14.3 deletion syndrome which includes severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformations. The condition follows autosomal dominant inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

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]

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AD2 OMIM phenotypes

Clinical Summary— NEDHSIL

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDHSIL?content-type=application/json&expand=1

gnomad: Error: Gene not found