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htt
HTT
HTT encodes huntingtin, a HEAT-repeat scaffold protein; CAG repeat expansion ≥36 in exon 1 → polyglutamine-expanded mHTT protein aggregation → striatal medium spiny neuron degeneration → Huntington disease; repeat length inversely predicts age of onset.
Entry Metadata
| Field | Value |
|---|---|
| ID | htt |
| Name | HTT |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983;306(5940):234-238. · PubMed 6316146
- The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72(6):971-983. · PubMed 8458085