HTT
huntingtin
Sinónimos:
HD, IT15
Especie:
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 del gen:
- 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
Referencia del producto
Descripción
Reactividad de especies
Aplicación
Anti-Polyglutamines antibody, Mouse monoclonal, ~2 mg/mL, clone 3B5H10, purified from hybridoma cell culture,
Reactividad de especies
human
Aplicación
immunocytochemistry
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Anti-Huntingtin Protein Antibody, clone 1M11, ZooMAb® Rabbit Monoclonal, recombinant, expressed in HEK 293 cells,
Reactividad de especies
human, mouse, rat
Aplicación
flow cytometry
immunocytochemistry
immunohistochemistry
western blot
immunocytochemistry
immunohistochemistry
western blot
Anti-HTT antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reactividad de especies
human
Aplicación
immunofluorescence
immunohistochemistry
immunohistochemistry
Anti-Huntingtin antibody produced in rabbit, ,
Reactividad de especies
human, mouse
Aplicación
immunohistochemistry
western blot
western blot
Anti-Htt Antibody Produced In Rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reactividad de especies
human
Aplicación
immunohistochemistry