Neoepitope antibodies distinguish smaller cleaved fragments or processed forms of proteins versus the intact full-length or precursor by using a designed peptide purification process to maximize immunoreactivity to a specific cleavage site.
Human HTT caspase cleavage sites generate fragment-specific forms of the protein. Caspase-3/7 has been shown to generate cleavage sites at animo acids 513 and 552. Caspase-2 cleaves at amino acid 552 and caspase-6 at amino acid 586. Neo-specific antibody PA1-004 recognizes the 586 cleaved fragment without detecting the full-length form.
Huntingtin is a disease gene linked to Huntington's 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 to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein.
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Protein Aliases: HD protein; HD protein homolog; Huntingtin; Huntingtin, myristoylated N-terminal fragment; Huntington disease gene homolog; Huntington disease protein; huntington disease protein homolog
Gene Aliases: AI256365; C430023I11Rik; HD; Hdh; HTT; IT15
UniProt ID: (Human) Q9UQB7