Huntingtin (also known as Huntington's disease protein, Htt and HD protein) is the protein product of a disease gene linked to Huntington's 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 Huntington's 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.
Host
Mouse
Immunogen
N-terminal pepetides 1-225 aa.
Isotype
IgG
Quantity
100 µg
Reactivity
Human
Recombinant
FALSE
Regulatory
RUO
Shipping Condition
Ice Packs
Buffer
PBS, pH 7.4 with 0.05% sodium azide.
Concentration
100µg/100ul
Description
Specificity: Recognize hungtingtin from human and mouse.
Format
Liquid
Storage
This product is stable for several weeks at 4°C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20°C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.
Storage Condition
-20C
Applications
WB, IHC
Description
Western blot and IHC in lipid metabolic research. Huntingtin is a 350kDa protein that is mutated in Huntington's disease (HD). The normal function of Huntingtin still remains uncertain but it has been suggested that it performs a necessary housekeeping function. The abnormal form of Huntingtin aggregates in vitro and forms neuronal intranuclear and cytoplasmic inclusions in HD patients. This antibody detects a 350KD band on western blots but also detects smaller degradation products_recover of Huntingtin in some tissue lysates., WB ; IHC