HTT
huntingtin
Sinonimi:
HD, IT15
Specie:
Human HTT (3064), Mouse Htt (15194), Rat Htt (29424), Zebrafish htt (30214), fruit fly htt (43392), chicken HTT (422878), domestic cat HTT (101086476), cow HTT (615059), dog HTT (479074), domestic guinea pig Htt (100713322)
ID UniProtKB:
ID gene:
- 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
N° Catalogo
Descrizione
Reattività con
Applicazione
Anticorpo anti-proteine con poliQ associate a malattia, clone 3B5H10, clone 3B5H10, from mouse,
Reattività con
human
Applicazione
electron microscopy
immunocytochemistry
immunohistochemistry
inhibition assay
western blot
immunocytochemistry
immunohistochemistry
inhibition assay
western blot
Anti-Polyglutamines antibody, Mouse monoclonal, ~2 mg/mL, clone 3B5H10, purified from hybridoma cell culture,
Reattività con
human
Applicazione
immunocytochemistry
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Anti-Huntingtin Protein Antibody, clone 1M11, ZooMAb® Rabbit Monoclonal, recombinant, expressed in HEK 293 cells,
Reattività con
human, mouse, rat
Applicazione
flow cytometry
immunocytochemistry
immunohistochemistry
western blot
immunocytochemistry
immunohistochemistry
western blot
Anti-Serotonin Transporter Antibody, 1 mg/mL, from rabbit,
Reattività con
bovine, chimpanzee, horse, human, monkey, mouse, rat, sheep
Applicazione
western blot
Anti-Huntingtin Antibody, a.a. 115-129 Antibody, clone 5HU-1H6, ,
Reattività con
human
Applicazione
immunocytochemistry
immunofluorescence
immunohistochemistry
western blot
immunofluorescence
immunohistochemistry
western blot