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Mode terang
Gen · Neurological
HTT
Huntingtin — Encodes huntingtin; an expanded CAG repeat in it causes Huntington's disease through a toxic gain of function.
4p16.3brainrepeat expansion
Hanya skema — proporsi lengan bersifat perkiraan dan detail pita tidak digambar dalam skala yang tepat. Lokasi sitogenetik sebagaimana diterbitkan oleh NCBI Gene.
Apa yang dilakukan gen ini
Near the start of the HTT gene is a short sequence — CAG — repeated over and over. Most people have fewer than 27 repeats. If the number grows past about 40, the protein made from the gene acquires a harmful new property and slowly kills brain cells. The more repeats, the earlier symptoms tend to begin.
HTT, at 4p16.3, encodes huntingtin, a large scaffolding protein with roles in vesicle transport and development. Expansion of the exon 1 CAG tract above roughly 40 repeats produces a polyglutamine tract conferring toxic gain of function, with an inverse relationship between repeat length and age of onset. Because wild-type huntingtin is essential, allele-selective strategies are preferred over total lowering.
Sources
MedlinePlus Genetics, U.S. National Library of Medicine HTT gene ↗
Written by The CRISPR Atlas editorial teamLast updated Aug 19, 2026
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