Tau-Protein

• OMIM: 157 140
• UniProt: P10636

The tau protein is a protein that binds to animal cells to support cytoskeletal proteins ( microtubules ) and the assembly controlled. Mutations in the MAPT gene in humans can cause a variety of hereditary diseases such as Pick's disease, Corticobasal degeneration, progressive supranuclear palsy and hddd dementia. Neurodegenerative diseases with deposits of tau protein are summarized in the group of tauopathies. The best known tauopathy is Alzheimer's disease.

Post-transcriptional changes in the gene locus located on chromosome 17 q21.2 MAPT gene cause can be detected a total of nine different isoforms in the human central nervous system. Of particular importance here is the alternative splicing of exons 2, 3 and 10, especially for the exon 10 more repetitions in some isoforms are known. The presence of 3 or 4 of these tandem repeats in the microtubule- binding site of the protein is used for the classification of tauopathies in 3R and 4R tauopathies. A seventh high molecular weight tau isoform is also detectable in the peripheral nervous system.

When assembling filamentous structures in the individual tau proteins via their repetitive sections are linked. Here, the amino -terminal end is cut off. Abnormal hyperphosphorylation of tau paired helical filaments ( PHF) leads to a non- multi-functional protein, which is unable to interact with microtubules. As a result of these pathological changes PHF deposits can be observed as neurofibrillary lesions in the brains of Alzheimer's patients.