Huntingtin (HTT) (NM_002111) Human Recombinant Protein
SKU
TP318435
Purified recombinant protein of Human huntingtin (HTT), with C-terminal MYC/DDK tag, expressed in HEK293 cells, 20 µg
$867.00
In Stock*
Specifications
| Product Data | |
| Species | Human |
|---|---|
| Expression Host | HEK293 |
| Expression cDNA Clone or AA Sequence | |
| Tag | C-Myc/DDK |
| Predicted MW | 347.7 kDa |
| Concentration | >0.1 µg/µL as determined by microplate BCA method |
| Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| Buffer | 25 mM Tris-HCl, 100 mM glycine, pH 7.3, 10% glycerol |
| Preparation | Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps. |
| Note | For testing in cell culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process. |
| Storage | Store at -80°C. |
| Stability | Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles. |
| Shipping | Dry Ice |
| Reference Data | |
| RefSeq | NP_002102 |
| Locus ID | 3064 |
| UniProt ID | P42858 |
| Cytogenetics | 4p16.3 |
| RefSeq Size | 13481 |
| RefSeq ORF | 9432 |
| Synonyms | HD; IT15; LOMARS |
| Summary | 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. A fairly broad range of trinucleotide repeats (9-35) 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 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. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. provided by RefSeq, Jul 2016 |
| Protein Categories | Intracellular Proteins, Membrane Proteins, Nervous system: Neurodegenerative diseases |
| Protein Families | Druggable Genome |
| Protein Pathways | Huntington's disease |
Reviews
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Resources
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complexities in the preparation of your product. International customers may expect an additional 1-2 weeks
in shipping.