84-5491-28　［取扱停止］Huntingtin, phosphorylated (Ser421) 100ul　537632

特徴

• 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 180kb 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 13kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10kb 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.
• Applications:Suitable for use in Immunohistochemistry and ELISA.
• Other applications not tested.
• Recommended Dilution:Immunohistochemistry (paraffin): 1:100-1:300ELISA: 1:5000Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.