產(chǎn)品編號(hào) | IHC0452H |
英文名稱 | Human Huntingtin Ready-To-Use IHC Kit |
中文名稱 | 人神經(jīng)性舞蹈病蛋白即用型免疫組化試劑盒 |
別 名 | AI256365; C430023I11Rik; HD; Hdh; HD protein; HD_HUMAN; HDH; HTT; Huntingtin; HUNTINGTON CHOREA; Huntington disease protein; Huntington's disease protein homolog; IT 15; IT15; OTTMUSP00000026909; ZHD |
適用樣品基質(zhì) | FFPE tissue |
保存條件 | Please store components at the temperatures indicated on the individual tube labels. The kit is stable for 6 months from the date of receipt. |
產(chǎn)品介紹 |
Huntingtin is a disease gene linked to Huntington's disease (HD), 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. HD is a mid-life onset autosomal dominant neurodegenerative disease that is characterized by psychiatric disorders, dementia, and involuntary movements (chorea), leading to death in 10-20 years.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. SWISS: P42858 Gene ID: 3064 |
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