Huntington's disease (HD) is a neurodegenerative disorder caused by an expanding polyglutamine repeat in the huntingtin (Htt) gene. HD is a mid-life onset autosomal dominant neurodegenerative disease that is characterized by psychiatric disorders, dementia, and involuntary movements (chorea), leading to death in 10-20 years. The HD gene product HTT is widely expressed in human tissues, with the highest level of expression in the brain. Furthermore, HTT is expressed at similar levels in HD patients and controls, which suggests that the expansion of the polyglutamine repeat induces a toxic gain of function perhaps through interactions with other cellular proteins. Using a yeast two-hybrid approach, HAP1 (huntington associated protein 1) was identified. HAP1 associates with HTT. The in vitro data suggest that the association between HAP1 and HTT is enhanced by increasing length of the glutamine repeat in HTT.
Albin R.L. & Tagle D.A. (1995) Trends Neurosci. 18:11.
Strong T.V. et al. (1993) Nature Genet. 5:259.
*For more information, see UniProt Accession P42858
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*All molecular weights (MW) are confirmed by comparison to Bio-Rad Rainbow Markers and to western blot mobilities of known proteins with similar MW.
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