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Rabbit Anti-Huntingtin/FITC Conjugated antibody
background:
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.
Function:
May play a role in microtubule-mediated transport or vesicle function.
Subunit:
Binds SH3GLB1 (By similarity). Interacts through its N-terminus with PRPF40A. Interacts with PQBP1, SETD2 and SYVN. Interacts with PFN1.
Subcellular Location:
Cytoplasm. Nucleus. The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington's disease neurons.
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 neocortex, the striatum, and the hippocampal formation.
Post-translational modifications:
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.
DISEASE:
Defects in HTT are the cause of Huntington disease (HD) [MIM:14620]. 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).
Similarity:
Belongs to the huntingtin family.
Contains 10 HEAT repeats.
Database links:
Entrez Gene: 3064 Human
Entrez Gene: 15194 Mouse
Entrez Gene: 29424 Rat
Omim: 14620 Human
Omim: 613004 Human
SwissProt: P42858 Human
SwissProt: P42859 Mouse
SwissProt: P51111 Rat
Unigene: 518450 Human
Unigene: 209071 Mouse
Unigene: 482929 Mouse
Unigene: 11193 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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