huntingtins
Huntingtins are the protein products of the HTT gene in humans. The huntingtin protein is large and widely expressed, with highest levels in the brain during development. The canonical form is about 3,100 amino acids long and weighs roughly 340 kilodaltons, and the gene can produce multiple isoforms through alternative splicing. A defining feature is an N-terminal polyglutamine tract encoded by a CAG repeat, whose length varies among individuals.
Normal function of huntingtin involves a variety of cellular processes essential for neuronal health. It participates
Mutations and disease arise when the CAG repeat in HTT expands, producing an elongated polyglutamine tract
Research and therapy focus on slowing or stopping disease progression. No cure exists, and management is supportive.