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Huntington's disease is an autosomal dominant neurodegenerative disorder caused by an expanded polyglutamine repeat region in the huntingtin gene. Huntingtin-associated protein 1 (HAP1) is a huntingtin associated protein that shows neuronal localization and moves with huntingtin in nerve fibers. The ability of HAP1 to bind to huntingtin is enhanced by the expanded polyglutamine repeat region that is typical of the mutant form of the protein associated with Huntington's disease.
Defects with HAP1 can lead to Huntington's disease, and HAP1 antibodies are therefore useful tools for Huntington's disease research and neuroscience studies.
