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Store vial at -20° C prior to opening. Aliquot contents and freeze at -20° C or below for extended storage. Avoid cycles of freezing and thawing. Centrifuge product if not completely clear after standing at room temperature. This product is stable for several weeks at 4° C as an undiluted liquid. Dilute only prior to immediate use.
This antibody is specific for phosphorylated human Huntington protein at the pS421 residue. BLAST analysis indicates 100 % homology of the immunizing sequence with Huntington homologues from chimpanzee, pig and chicken. Cross reactivity with Huntington protein homologues from mouse and rat may also occur as sequence homology varies by one amino acid residue in this sequence. Reactivity with Huntington protein from other sources is not known. Minimal reactivity is expected with the non-phosphorylated form of the protein.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: HD protein; Huntingtin; Huntington disease protein
基因别名: HD; HTT; IT15
UniProt ID: (Human) P42858
Entrez Gene ID: (Human) 3064