" /> HTT wt Allele - CISMeF





Preferred Label : HTT wt Allele;

NCIt synonyms : HD; IT15; Huntingtin (Huntington disease) Gene; Huntingtin wt Allele;

NCIt definition : Human HTT wild-type allele is located in the vicinity of 4p16.3 and is approximately 199 kb in length. This allele, which encodes huntingtin protein, may play a role in microtubule-mediated transport or vesicle function. Genetic polymorphism of this gene is associated with Huntington disease.;

NCIt note : The HTT gene has a trinucleotide repeat sequence CAG, that encodes a glutamine rich region and exhibits polymorphism in the human population. Individuals with more than 35 CAG repeats exhibit symptoms and an earlier age of onset for Huntington disease that is dose dependent. Individuals with 10-35 CAG repeats are unaffected.;

GenBank Accession Number : L12392;

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14/05/2024


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