antibody

HD (Huntington Disease Protein, HD Protein, HTT, IT15)

MBS6008896

0.1 mg

515 USD

monoclonal

mouse

nonconjugated

3F1

western blot, ELISA, immunohistochemistry, enzyme immunoassay

Antibody

HD (Huntington Disease Protein, HD Protein, HTT, IT15)

HD (Huntington Disease Protein, HD Protein, HTT, IT15)

Anti -HD (Huntington Disease Protein, HD Protein, HTT, IT15)

huntingtin; Huntingtin; huntingtin; huntington disease protein; huntingtin; Huntington disease protein

HTT; HTT; HD; IT15; HD; IT15; HD protein

HD_HUMAN

Monoclonal

IgG2a,k

3F1

Mouse

Human

AVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRN
SPEFQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIK
ALMDSNLPRLQLELYKEIKKNGAPRSLRAALW

Recognizes human HD.

Affinity Purified. Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

ELISA (EL/EIA), Western Blot (WB), Immunohistochemistry (IHC)

Suitable for use in ELISA, Western Blot and Immunohistochemistry. Dilution: Immunohistochemistry (Formalin fixed paraffin embedded): 3ug/ml

Immunogen: Partial recombinant corresponding to aa81-190 from human HD (NP_002102) with GST tag. MW of the GST tag alone is 26kD.

Antibodies; Abs to Disease Markers

May play a role in microtubule-mediated transport or vesicle function.

90903231

NP_002102.4

NM_002111.6

P42858

347,603 Da

Direct P53 Effectors Pathway (137939); EGFR1 Signaling Pathway (198782); Huntington's Disease Pathway (83100); Huntington's Disease Pathway (512)

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]

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: nucleoplasm; Golgi apparatus; cytoplasmic vesicle membrane; protein complex; mitochondrion; axon; endoplasmic reticulum; late endosome; dendrite; cytoplasm; autophagic vacuole; inclusion body; nucleus; cytosol. 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; quinolinate biosynthetic process; organ development; vesicle transport along microtubule; retrograde vesicle-mediated transport, Golgi to ER; 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; neuron development; hormone metabolic process; spermatogenesis; regulation of mitochondrial membrane permeability; response to calcium ion; neural plate formation; urea cycle. Disease: Huntington Disease

0.1 mg

515 USD