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HTT

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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.

Derivation:
Mouse
Species Reactivity:
Human
Type:
IgG
Application:
WB, Neut, FuncS
Derivation:
Mouse
Species Reactivity:
Human
Type:
Fab
Application:
IP, IF, FuncS
Derivation:
Mouse
Species Reactivity:
Human
Type:
scFv
Application:
FC, Neut, Funcs
Species Reactivity:
human
Type:
scFv-(D-Arg)9
Application:
ELISA, WB, ICC, FuncS
Species Reactivity:
human
Type:
scFv-(+36GFP)
Application:
IF, FC, WB, FuncS
Species Reactivity:
human
Type:
scFv-Tat
Application:
WB, CO-IP, FuncS
Derivation:
Human
Species Reactivity:
Human
Type:
Fab
Application:
Neut, WB, FuncS
Derivation:
Human
Species Reactivity:
Human
Type:
scFv
Application:
ELISA, WB, FuncS
Derivation:
Human
Species Reactivity:
Human
Type:
Fab
Application:
BL
Derivation:
Human
Species Reactivity:
Human
Type:
Fab
Application:
FACS, ELISA
Derivation:
Human
Species Reactivity:
Human
Type:
IgG
Application:
BL
Derivation:
Human
Species Reactivity:
Human
Type:
IgG
Application:
FACS, ELISA
Species Reactivity:
Human
Type:
Human antibody
Application:
ELISA, WB
Derivation:
Hybridoma cell line
Species Reactivity:
Human
Application:
ELISA, WB
Derivation:
Hybridoma cell line
Species Reactivity:
Human
Application:
ELISA, WB
Derivation:
Hybridoma cell line
Species Reactivity:
Human
Application:
ELISA, WB
Species Reactivity:
Human
Application:
Dot, WB
Derivation:
Mouse
Species Reactivity:
Human
Type:
IgG
Application:
WB, ELISA, FuncS
Derivation:
Human
Species Reactivity:
Human
Type:
IgG
Application:
WB, Neut, FuncS
Derivation:
Phage display library
Species Reactivity:
Human, Mouse
Type:
Mouse IgG2b
Application:
ELISA, FC, WB, IHC
Derivation:
Phage display library
Species Reactivity:
Human, Mouse
Type:
Mouse IgM
Application:
ELISA, FC, WB, IHC
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