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Anti-Huntingtin pS1201 is directed against the phosphorylated form of the S1201 residue. A BLAST analysis was used to suggest cross-reactivity with human based on 100% sequence homology. Cross-reactivity with Huntington pS1201 from other sources has not been determined.
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.
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蛋白别名: HD protein; HD protein homolog; Huntingtin; huntingtin (Huntington disease); Huntington disease gene homolog; Huntington disease protein; huntington disease protein homolog
基因别名: AI256365; C430023I11Rik; HD; Hdh; HTT; IT15
UniProt ID: (Human) P42858
Entrez Gene ID: (Human) 3064, (Rat) 29424, (Mouse) 15194