| Description : |
Huntingtin is a disease gene linked to Huntingtons 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. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. 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 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. This gene contains an upstream open reading frame in the 5 UTR that inhibits expression of the huntingtin gene product through translational repression. |
| Protein length : |
110 amino acids |
| Molecular Weight : |
37.730kDa inclusive of tags |
| Source : |
Wheat germ |
| Tissue specificity : |
Expressed in the brain cortex (at protein level). 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 neo |
| Biological activity : |
useful for Antibody Production and Protein Array |
| Form : |
Liquid |
| Purity : |
Proprietary Purification |
| Storage buffer : |
pH: 8.00Constituents:0.79% Tris HCl, 0.31% GlutathioneNote: Glutathione is reduced |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles. |
| Sequences of amino acids : |
AVAEEPLHRPKKELSATKKDRVNHC LTICENIVAQSVRNSPEFQKLLGIA MELFLLCSDDAESDVRMVADECLNK VIKALMDSNLPRLQLELYKEIKKNG APRSLRAALW |
| Sequence Similarities : |
Belongs to the huntingtin family.Contains 10 HEAT repeats. |
