To elucidating

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He was a prolific writer, writing more than 160 books, but not all of them were printed.It is variable in its structure, as the many polymorphisms of the gene can lead to variable numbers of glutamine residues present in the protein.These appear to indicate a functional role in cytoskeletal anchoring or transport of mitochondria.The Htt protein is involved in vesicle trafficking as it interacts with HIP1, a clathrin-binding protein, to mediate endocytosis, the trafficking of materials into a cell.Its commonly used name is derived from this disease; previously, the IT15 label was commonly used.The mass of huntingtin protein is dependent largely on the number of glutamine residues it has, the predicted mass is around 350 k Da.

However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), it contains more than 36 glutamine residues (highest reported repeat length is about 250).NIIs (protein clumping) can thereby be construed as a coping mechanism—as opposed to a pathogenic mechanism—to stem neuronal death by decreasing the amount of diffuse huntingtin.This process is particularly likely to occur in the striatum (a part of the brain that coordinates movement) primarily, and the frontal cortex (a part of the brain that controls thinking and emotions).These expanded repeats lead to production of a huntingtin protein that contains an abnormally long polyglutamine tract at the N-terminus.This makes it part of a class of neurodegenerative disorders known as trinucleotide repeat disorders or polyglutamine disorders.

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