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HTT / Huntingtin

huntingtin

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.

Gene Name: huntingtin
Family/Subfamily: Hungtintin , Not assigned-Other
Synonyms: HTT, Huntingtin, Huntington disease protein, IT15, HD, HD protein
Target Sequences: NM_002111 NP_002102.4 P42858

Publications (2)

1
Inhibition of apoptosis signal-regulating kinase 1 reduces endoplasmic reticulum stress and nuclear huntingtin fragments in a mouse model of Huntington disease. Cho KJ, Lee BI, Cheon SY, Kim HW, Kim HJ, Kim GW. Neuroscience. 2009 163:1128-34. (IHC, WB) [PubMed:19646509]
2
Adeno-Associated Viral Vector Serotype DJ-Mediated Overexpression of N171-82Q-Mutant Huntingtin in the Striatum of Juvenile Mice Is a New Model for Huntington's Disease. Jang M, Lee SE, Cho IH. Frontiers in cellular neuroscience. 2018 June;12:157. (Human) [Full Text Article] [PubMed:29946240] [PMC:PMC6005874] Related Antibodies: LS-C24591.

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HTT / Huntingtin ELISA Kit
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Sandwich
96-Well Strip Plate
Human
0.156 - 10 ng/ml
Colorimetric - 450nm (TMB)
Cell Lysates, Tissue Homogenates
1 Plate/$834
HTT / Huntingtin ELISA Kit
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Sandwich
96-Well Strip Plate
Human
15.6 - 1000 pg/ml
Colorimetric - 450nm (TMB)
Plasma, Serum
1 Plate/$669
HTT / Huntingtin ELISA Kit
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Sandwich
96-Well Strip Plate
Mouse
78 - 5000 pg/ml
Colorimetric - 450nm (TMB)
Serum
1 Plate/$669
HTT / Huntingtin ELISA Kit
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Sandwich
96-Well Strip Plate
Human
12.5 - 800 pg/ml
Colorimetric - 450nm (TMB)
Plasma, Serum, Tissue Homogenates
1 Plate/$958
HTT / Huntingtin ELISA Kit
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Sandwich
96-Well Strip Plate
Mouse
0.156 - 10 ng/ml
Colorimetric - 450nm (TMB)
Cell Lysates, Tissue Homogenates
1 Plate/$748
HTT / Huntingtin ELISA Kit
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Sandwich
96-Well Strip Plate
Mouse
78 - 5000 pg/ml
Colorimetric - 450nm (TMB)
Brain Cell Lysates, Tissue Homogenates
1 Plate/$579
HTT / Huntingtin ELISA Kit
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Sandwich
96-Well Strip Plate
Rat
0.156 - 10 ng/ml
Colorimetric - 450nm (TMB)
Plasma, Serum
1 Plate/$783
HTT / Huntingtin ELISA Kit
Select
Custom
96-Well Strip Plate
Rat
Colorimetric - 450nm (TMB)
1 Plate/$669
HTT / Huntingtin ELISA Kit
Select
Competitive EIA
96-Well Strip Plate
Human
15.625 - 1000 pg/ml
Colorimetric - 450nm (TMB)
Plasma, Serum, Tissue Homogenates
1 Plate/$579
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For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).