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Huntington's disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the Huntington protein. Huntington co-purifies with a single novel 40 kDa protein designated HAP40. Recombinant HAP40 is cytoplasmic in the presence of Huntington but is actively targeted to the nucleus in the absence of Huntington. These observations suggest that HAP40 °Contributes to the function of normal Huntington and is a candidate for involvement in the aberrant nuclear localization of mutant Huntington found in degenerating neurons in Huntington's disease.
40-kDa huntingtin-associated protein; AI852759; coagulation factor VIII-associated (intronic transcript) 1; coagulation factor VIII-associated 1; cpG island protein; DXS522E; DXUcsf1; F8A; F8A1; F8A2; F8A3; factor 8-associated gene A; Factor VIII associated protein; factor VIII intron 22 protein; HAP40; huntingtin-associated protein 40; RP23-114O19.4
100 µL
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