huntingtin

(= huntingtin-associated protein-1) Protein product of the IT15 gene that has variable numbers of polyglutamine repeats in Huntington's chorea. 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. ...

huntingtin

Huntingtin: The name of the gene responsible for Huntington disease (HD) and of the protein encoded by that gene. The molecular basis of HD is an increase in the length of a CAG triplet repeat (or 'polyglutamine') within the huntingtin gene. The gene is on chromosome 4p16.3. The huntingtin mutation (gene change) is fully dominant; homozygotes (who ...
Found on http://www.medterms.com/script/main/art.asp?articlekey=11563

huntingtin

<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 (...
Found on http://www.encyclo.co.uk/local/20973

huntingtin

(from the article `Huntington disease`) ...causes Huntington disease occurs in a gene known as HD (officially named huntingtin [Huntington disease]). This gene, which is located on human ...
Found on http://www.britannica.com/eb/a-z/h/84

huntingtin

Type: Term Pronunciation: hŭn′ting-tin Definitions: 1. Cytoplasmic protein, found in fetal and adult peripheral tissue; function remains unclear. Of approximately 3000 amino-acid residues, it is elongated by polyglutamate residues of various lengths in Huntington disease (q.v.) and other neuropathies.
Found on http://www.medilexicon.com/medicaldictionary.php?t=41731

Huntingtin

The huntingtin gene, also called the HTT or HD (Huntington disease) gene, is the IT15 (`interesting transcript 15`) gene, which codes for a protein called the huntingtin protein. The gene and its product are under heavy investigation as part of Huntington`s disease clinical research and the suggested role for huntingtin in long-term memory stor......
Found on http://en.wikipedia.org/wiki/Huntingtin
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