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Saitohin is a human-specific, intronless gene embedded within the intron of the tau (MAPT) gene, encoding a 128-amino acid protein with no homologs in other species[1][2][4]. It is expressed in human tissues such as placenta, muscle, fetal and adult brain[2]. Saitohin interacts with tau protein and the non-receptor tyrosine kinase c-Abl, which can phosphorylate Saitohin on its single tyrosine residue, suggesting allele-specific modulation of phosphorylation and possible involvement in neurodegeneration[1]. The Q7R polymorphism of Saitohin is over-represented in Alzheimer’s disease cases, providing a genetic link to disease predisposition, although its precise function—and its role in tauopathies—remains to be elucidated[1][2].
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