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.
cpG island protein; Factor VIII associated protein; factor VIII intron 22 protein; RP23-114O19.4