|Western Blot (WB)||1 µg/ml|
|Tested Species reactivity||Human, Mouse|
|Host / Isotype||Mouse / IgG|
|Immunogen||Fusion protein containing a repeating sequence of 62 consecutive glutamine residues.|
|Contains||0.05% sodium azide|
|Storage conditions||Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.|
Clone 1A771 binds to the expanded polyQ repeat form of Htt in WB, showing no detectable binding to normal Htt in WB.
Suggested positive control: Lymphoblast cell line extracts from HD patients.
Huntington's disease (HD) is a neurodegenerative disorder caused by an expanding polyglutamine repeat in the huntingtin gene. 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 HD gene product is widely expressed in human tissues, with the highest level of expression in the brain. The huntington gene product is expressed at similar levels in patients and controls, which suggests that the expansion of the polyglutamine repeat induces a toxic gain of function perhaps through interactions with other cellular proteins. Using yeast two-hybrid system Li et al., have identified a protein, HAP1 (huntington associated protein 1), that associates with huntingtin protein. The in vitro data suggest that the association between HAP1 and huntington is enhanced by increasing length of glutamine repeat.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: HD protein; HD protein homolog; 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
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