Anti-Huntingtin Antibody

Description

Huntingtin also known as Huntingtons disease protein, Htt and HD protein is the protein product of a disease gene linked to Huntingtons disease, a neuro-degenerative disorder characterized by loss of striatal neurons. This may be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product see partial protein sequence below . The huntingtin gene locus is large, spanning 180 kb and consisting of 67 exons. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The genetic defect leading to Huntingtons disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. Normal huntingtin protein shows a cytoplasmic localization. This protein is widely expressed with the highest level of expression in the brain nerve fibers, varicosities, and nerve endings . In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation.