基因名称(Gene Name)
HTT HD IT15
蛋白名称
Huntingtin (Acetyl Lys442)
免疫原
Synthesized peptide derived from human Huntingtin (Acetyl Lys442)
特异性
This antibody detects endogenous levels of Human,Mouse,Rat Huntingtin (Acetyl Lys442)
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Polyclonal, Rabbit,IgG
稀释比例
WB 1:1000-2000 ELISA 1:5000-20000
纯化工艺
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
其他名称
Huntingtin (Huntington disease protein;HD protein)
背景
huntingtin(HTT) Homo sapiens 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 widel
功能
disease: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).,function:May play a role in microtubule-mediated transport or vesicle function.,online information:Huntingtin entry,polymorphism:The poly-Gln region of HT
