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Merck

HTT

huntingtin

同義詞:
HD, IT15
物種:
UniProtKB ID:
基因 ID:
  • Human(3064) Summary: 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 in the number of trinucleotide repeats 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 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. [provided by RefSeq, Jul 2008]
  • Mouse(15194) huntingtin
  • Rat(29424) huntingtin
  • Zebrafish(30214) huntingtin
  • fruit fly(43392) huntingtin
  • chicken(422878) huntingtin
  • domestic cat(101086476) huntingtin
  • cow(615059) huntingtin
  • dog(479074) huntingtin
  • domestic guinea pig(100713322) huntingtin
  • naked mole-rat(101697599) huntingtin

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Antibodies

產品編號
描述
物種活性
應用
抗-polyQ疾病蛋白抗体(克隆3B5H10), clone 3B5H10, from mouse,
物種活性
human
應用
electron microscopy
immunocytochemistry

immunohistochemistry

inhibition assay

western blot
抗聚谷氨酰胺抗体,小鼠单克隆 小鼠抗, ~2 mg/mL, clone 3B5H10, purified from hybridoma cell culture,
物種活性
human
應用
immunocytochemistry
immunoprecipitation (IP)

western blot
Anti-Serotonin Transporter Antibody, 1 mg/mL, from rabbit,
物種活性
bovine, chimpanzee, horse, human, monkey, mouse, rat, sheep
應用
western blot
Anti-HTT Mouse mAb (3F1), liquid, clone 3F1, Calbiochem®,
物種活性
human
應用
抗-亨廷顿蛋白抗体,克隆mEM48, culture supernatant, clone mEM48, Chemicon®,
物種活性
human, mouse, rat
應用
immunocytochemistry
immunohistochemistry

western blot