HTT
huntingtin
Synonimy:
HD, IT15
Gatunek:
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)
Identyfikator UniProtKB:
Identyfikator genu:
- 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
Numer produktu
Opis
Reaktywność gatunkowa
Zastosowanie
Anty-Huntingtin, ,
Reaktywność gatunkowa
human, mouse
Zastosowanie
immunohistochemistry
western blot
western blot
Anti-Polyglutamines antibody, Mouse monoclonal, ~2 mg/mL, clone 3B5H10, purified from hybridoma cell culture,
Reaktywność gatunkowa
human
Zastosowanie
immunocytochemistry
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Monoclonal Anti-HD antibody produced in mouse, clone 3F1, purified immunoglobulin, buffered aqueous solution,
Reaktywność gatunkowa
human
Zastosowanie
ELISA
immunohistochemistry
western blot
immunohistochemistry
western blot
Anty-Huntingtin, from rabbit, purified by affinity chromatography,
Reaktywność gatunkowa
human, mouse
Zastosowanie
immunohistochemistry
western blot
western blot
Anti-Serotonin Transporter Antibody, 1 mg/mL, from rabbit,
Reaktywność gatunkowa
bovine, chimpanzee, horse, human, monkey, mouse, rat, sheep
Zastosowanie
western blot