catalog number :
MBS2031404
products type :
Recombinant Protein
products full name :
Recombinant Huntingtin (HTT)
products short name :
[Huntingtin]
other names :
[huntingtin; Huntingtin; huntingtin; huntingtin; Huntington disease protein; HD protein]
products gene name :
[HTT]
other gene names :
[HTT; HTT; HD; IT15; HD; IT15; HD protein]
uniprot entry name :
HD_HUMAN
form :
20mM Tris, 150mM NaCl, pH8.0, containing 1mM EDTA, 1mM DTT, 0.01% SKL, 5% Trehalose and Proclin300.
concentration :
Original Concentration: 200ug/mL
storage stability :
Avoid repeated freeze/thaw cycles. Store at 2-8°C for one month. Aliquot and store at -80°C for 12 months. Stability Test: The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.
tested application :
Positive Control; Immunogen; SDS-PAGE; Western Blot (WB)
app notes :
(May be suitable for use in other assays to be determined by the end user.)
image1 heading :
Sequence
image2 heading :
SDS-PAGE
image3 heading :
Gene Sequencing (Extract)
other info1 :
Organism Species: Mus musculus (Mouse). Source: Prokaryotic expression. Residues: Thr782~Phe920. Tags: N-terminal His and GST Tag. Subcellular Location: Nucleus, Cytoplasm. Purity: > 90%. Traits: Freeze-dried powder
other info2 :
Predicted isoelectric point: 6.5. Usage: Reconstitute in 20mM Tris, 150mM NaCl (pH8.0) to a concentration of 0.1-1.0 mg/mL. Do not vortex.
ncbi acc num :
NP_002102.4
ncbi gb acc num :
NM_002111.7
ncbi mol weight :
Predicted Molecular Mass: 45.7kDa. Accurate Molecular Mass: 46kDa as determined by SDS-PAGE reducing conditions.
ncbi pathways :
Direct P53 Effectors Pathway (137939); EGFR1 Signaling Pathway (198782); Huntington's Disease Pathway (83100); Huntington's Disease Pathway (512)
ncbi 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 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 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 2008]
uniprot summary :
Huntingtin: may play a role in microtubule-mediated transport or vesicle function. 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. Defects are the cause of 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 isoforms displaying different relative abundance in various fetal and adult tissues. Protein type: Cytoskeletal. Chromosomal Location of Human Ortholog: 4p16.3. Cellular Component: Golgi apparatus; protein complex; cytoplasmic vesicle membrane; mitochondrion; endoplasmic reticulum; dendrite; autophagic vacuole; inclusion body; cytosol; nucleoplasm; axon; late endosome; cytoplasm; nucleus. Molecular Function: identical protein binding; protein binding; p53 binding; dynein intermediate chain binding; beta-tubulin binding; diazepam binding; transcription factor binding. Biological Process: ER to Golgi vesicle-mediated transport; paraxial mesoderm formation; citrulline metabolic process; regulation of protein phosphatase type 2A activity; regulation of synaptic plasticity; locomotory behavior; determination of adult life span; endosome transport; anterior/posterior pattern formation; L-glutamate import; regulation of mitochondrial membrane potential; establishment of mitotic spindle orientation; protein import into nucleus; organ development; quinolinate biosynthetic process; retrograde vesicle-mediated transport, Golgi to ER; vesicle transport along microtubule; visual learning; negative regulation of neuron apoptosis; Golgi organization and biogenesis; grooming behavior; endoplasmic reticulum organization and biogenesis; positive regulation of inositol-1,4,5-triphosphate receptor activity; striatum development; axon cargo transport; cell aging; olfactory lobe development; social behavior; lactate biosynthetic process from pyruvate; neuron apoptosis; iron ion homeostasis; insulin secretion; dopamine receptor signaling pathway; hormone metabolic process; neuron development; spermatogenesis; regulation of mitochondrial membrane permeability; response to calcium ion; neural plate formation; urea cycle. Disease: Huntington Disease