TULP3 Summary

This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]

TULP3 Details

Gene Symbol : TULP3

Gene Name : Tubby like protein 3

Chromosome : CHR 12: 289,086,6-294,113,9

Locus : 12p13.33

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C12ORF57 Summary

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

C12ORF57 Details

Gene Symbol : C12ORF57

Gene Name : Chromosome 12 open reading frame 57

Chromosome : CHR 12: 694,343,7-694,600,2

Locus : 12p13.31

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