AI256365, C430023I11Rik, HD, Hdh, HD protein, HD_HUMAN, HDH, HTT, Huntingtin, HUNTINGTON CHOREA, Huntington disease protein, Huntingtons disease protein homolog, IT 15, IT15,OTTMUSP00000026909, ZHDa
Huntingtin is a disease gene linked to Huntingtons disease (HD), 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. HD is a mid-life onset autosomal dominant neurodegenerative disease that is characterized by psychiatric disorders, dementia, and involuntary movements (chorea), leading to death in 10-20 years.The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading toHuntingtons disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein.
Proben:
FFPE tissue
Target-Kategorie:
Mouse Huntingtin
IHC0452M
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