TTCR (tetratricopeptide repeat protein 3) is one of the main genes present within the Down syndrome critical region (DSCR) on human chromosome 21q22.2. The encoded protein is an E3 ubiquitin liase, composed of 2025 amino acids, and its N-terminal contains three tetratricopeptide repeat (TPR) motifs. It also contains a RING (really interesting new gene) finger motif, a putative Akt phosphorylation site, and nuclear localization signals.
Immunogen
TTC3 (NP_003307, 1 a.a. ~ 110 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
TTCR (tetratricopeptide repeat protein 3) interacts with phosphorylated Akt protein, and promotes its ubiquitination and degradation in the nucleus. The expression of TTCR is increased in Down syndrome (DS) cells, and its interaction with Akt protein is thought to be responsible for the clinical symptoms of DS. TTC3-RhoA-CIT-K (citron kinase) pathway is thought to play a key role in neuronal development, and its hyperactivity might result in disruption of normal differentiation.
Physical form
Solution in phosphate buffered saline, pH 7.4
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The serine threonine kinase Akt is a core survival factor that underlies a variety of human diseases. Although regulatory phosphorylation and dephosphorylation have been well documented, the other posttranslational mechanisms that modulate Akt activity remain unclear. We show here that
Journal of cell science, 120(Pt 11), 1859-1867 (2007-05-10)
The Down syndrome critical region (DSCR) on Chromosome 21 contains many genes whose duplication may lead to the major phenotypic features of Down syndrome and especially the associated mental retardation. However, the functions of DSCR genes are mostly unknown and
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