TNPO1 Summary

This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]

TNPO1 Details

Gene Symbol : TNPO1

Gene Name : Transportin 1

Chromosome : CHR 5: 728,165,90-729,143,87

Locus : 5q13.2

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MEF2C Summary

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]

MEF2C Details

Gene Symbol : MEF2C

Gene Name : Myocyte enhancer factor 2C

Chromosome : CHR 5: 889,041,04-887,182,40

Locus : 5q14.3

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