Huntingtin

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Huntingtin

(Science: molecular biology) protein product of the IT15 gene that has variable numbers of polyglutamine repeats in Huntingdon's disease. The IT15 gene is widely expressed and required for nomal development. The polyglutamine repeats (44 in the commonest form of the disease) increase the interaction of huntingtin with huntingtin associated protein 1 (HAP 1) which is enriched in the brain and may be associated with pathology. Nature, 378: 398