This Antibody was verified by Cell Treatment to ensure that the antibody binds to the antigen stated. View Details
PA1-087 has been successfully used in immunofluorescence, immunohistochemistry, and Western blotting applications on human and mouse samples.
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. 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; Htt; Huntingtin; Huntington disease gene homolog; Huntington disease protein; huntington disease protein homolog; IT15
Gene Aliases: AI256365; C430023I11Rik; HD; Hdh; HTT; IT15
UniProt ID: (Human) P42858