Huntingtin Recombinant Rabbit mAb (一抗) - WB,IHC-P,IHC-F,IF,Flow-Cyt | Bioss

bsm-54305R

重组兔单抗

Huntingtin Recombinant Rabbit mAb

神经性舞蹈病蛋白重组兔单抗

HD; IT15; LOMARS; C430023I11Rik; Hdh; HD_HUMAN; HTT; Huntington disease protein (HD protein); HD_MOUSE; Huntington disease protein homolog (HD protein homolog); HD_RAT; huntingtin; huntingtin (Huntington disease)

Rabbit

A synthesized peptide derived from human Huntingtin: 1-47

IgG

Liquid

affinity purified by Protein A

Recombinant

1F10

347 kDa

350 kDa

1mg/ml

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

Huntingtin is a protein that contains a polyglutamine region. When the number of glutamine repeats exceeds 35, the gene encodes a version of Huntingtin that leads to Huntington’s disease (HD). When the polyglutamine stretch is mutated, Huntingtin acts within the nucleus to induce neurodegeneration by a cell-specific apoptotic mechanism. Loss of Huntingtin activity is unlikely to be the cause of HD, and it has been proposed that the expanded glutamine repeat region may induce an abnormal interaction between the mutant protein and other cellular proteins. Huntingtin interacts with a variety of proteins including HAP1, glyceraldehyde phosphate dehydrogenase (GAPDH) and HIP1.

HTT

Huntingtin

Binds SH3GLB1 (By similarity). Interacts through its N-terminus with PRPF40A. Interacts with PQBP1, SETD2 and SYVN. Interacts with PFN1.

Cytoplasm. Nucleus. The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington's disease neurons.

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 neocortex, the striatum, and the hippocampal formation.

Cleaved by apopain downstream of the polyglutamine stretch. The resulting N-terminal fragment is cytotoxic and provokes apoptosis.
Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation.

Defects in HTT are the cause of Huntington disease (HD) [MIM:143100]. HD is an autosomal dominant neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life and symptoms progressively worsen leading to death in 10 to 20 years. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. HD affects 1 in 10,000 individuals of European origin. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen (striatum).

Belongs to the huntingtin family.
Contains 10 HEAT repeats.

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