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Huntingtin rabbit pAb

CAT: 0855-ES5728-01Size: 50 µLDry Ice: NoHazardous: No
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Background
Huntingtin (HTT) Homo sapiens 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 of trinucleotide repeats (9-35) 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 widel
Description
Huntingtin (HTT) Homo sapiens 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 of trinucleotide repeats (9-35) 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 widel
UniProt
P42858
Swiss Prot
P42858
Reactivity
Human; Mouse; Rat
Immunogen
The antiserum was produced against synthesized peptide derived from human Huntingtin. AA range:387-436
Clonality
Polyclonal
Source
Rabbit
Applications
IHC; IF; ELISA
Concentration
1 mg/ml
Dilution
Immunohistochemistry: 1/100 - 1/300. ELISA: 1/5000. Not yet tested in other applications.
Storage Conditions
-20°C/1 year
Fragment
IgG
Subcellular Location
[Huntingtin]: Cytoplasm . Nucleus . Early endosome . The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner (PubMed:15654337) . Recruits onto early endosomes in a Rab5- and HAP40-dependent fashion (PubMed:16476778) . .; [Huntingtin, myristoylated N-terminal fragment]: Cytoplasmic vesicle, autophagosome .
Other Product Names
HTT; HD; IT15; Huntingtin; Huntington disease protein; HD protein
Gene ID (Human)
3064

UniProtKB · P42858

Huntingtin

HD_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
P42858
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
HTT
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
Q9UQB7
Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

PTM

AcetylationLipoproteinMyristatePhosphoproteinUbl conjugation

Biological process

Apoptosis

Cellular component

CytoplasmCytoplasmic vesicleEndosomeNucleus

Disease

Disease variantIntellectual disabilityNeurodegeneration

Domain

Repeat

Coding sequence diversity

Triplet repeat expansion