人 MEF2C (NM_001193348) cDNA克隆

Accession: NM_001193348
基因名称: MEF2C
基因别名: DEL5q14.3; C5DELq14.3
基因描述: Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 4, mRNA.
种属: Human
CDS区长度: 1254 (查看编码区序列)
翻译后氨基酸长度: 417 (查看氨基酸序列)
Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
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G111379 人 MEF2C (NM_001193348) cDNA克隆 pDONR223 2ug质粒 点击询价

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 mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]