About: MEF2C wt Allele

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About: MEF2C wt Allele Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Class
rdfs:label	MEF2C wt Allele
rdfs:subClassOf	MEF2C Gene nodeID://b689633 nodeID://b689634 nodeID://b689635 nodeID://b689636 nodeID://b689637 nodeID://b689638 nodeID://b689639 nodeID://b689640 nodeID://b689641 nodeID://b689642 nodeID://b689643
OMIM_Number	600662
GenBank_Accession_Number	AL833268
Semantic_Type	Gene or Genome
Preferred_Name	MEF2C wt Allele
UMLS_CUI	C2984884
EntrezGene_ID	4208
HGNC_ID	HGNC:6996
FULL_SYN	MADS Box Transcription Enhancer Factor 2, Polypeptide C (Myocyte Enhancer Factor 2C) GeneSYNCI Myocyte Enhancer Factor 2C wt AlleleSYNCI MEF2C wt AllelePTNCI DEL5q14.3SYNCI C5DELq14.3SYNCI
DEFINITION	NCIHuman MEF2C wild-type allele is located in the vicinity of 5q14 and is approximately 186 kb in length. This allele, which encodes myocyte-specific enhancer factor 2C protein, is involved in the mediation of cardiac morphogenesis, muscle cell differentiation and vasculogenesis. Mutations and deletions of the gene are associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation.
code	C92162

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