HTT

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolHTT
Namehuntingtin
Typeprotein-coding
Sourcemygene

Summary

Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large,

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