ATXN1 polyclonal antibody
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More Files
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Specification
Product Description
Rabbit polyclonal antibody raised against recombinant human ATXN1.
Immunogen
Recombinant protein corresponding to amino acids of human ATXN1.
Sequence
RAPGLITPGSPPPAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHFVPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHP
Host
Rabbit
Reactivity
Human
Form
Liquid
Purification
Antigen affinity purification
Isotype
IgG
Recommend Usage
Immunohistochemistry (1:200-1:500)
Immunofluorescence (1-4 ug/mL)
The optimal working dilution should be determined by the end user.Storage Buffer
In PBS, pH 7.2 (40% glycerol, 0.02% sodium azide)
Storage Instruction
Store at 4°C. For long term storage store at -20°C.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections)
Immunohistochemical staining of human cerebral cortex with ATXN1 polyclonal antibody (Cat# PAB29341) shows strong nuclear and cytoplasmic positivity in neuronal cells.Immunofluorescence
Immunofluorescent staining of human cell line A-431 with ATXN1 polyclonal antibody (Cat# PAB29341) under 1-4 ug/mL working concentration shows positivity in vesicles & nucleus but excluded from the nucleoli. -
Gene Info — ATXN1
Entrez GeneID
6310Protein Accession#
P54253Gene Name
ATXN1
Gene Alias
ATX1, D6S504E, SCA1
Gene Description
ataxin 1
Gene Ontology
HyperlinkGene Summary
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele. At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq
Other Designations
OTTHUMP00000016065|OTTHUMP00000039306|olivopontocerebellar ataxia 1, autosomal dominant|spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
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Interactome
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Disease
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