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anti-ATXN2 antibody :: Rabbit anti-Human ATXN2 Antibody

Scan QR to view Datasheet Catalog #    MBS000850 anti-ATXN2 antibody
Unit / Price
0.05 mL  /  $270 +1 FREE 8GB USB
0.1 mL  /  $445 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

ATXN2, Antibody

★Popular Item★
 Also Known As   

Rabbit ATXN2 Antibody

 Product Gene Name   

anti-ATXN2 antibody

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Chromosome Location    Chromosome: 12; NC_000012.11 (111890018..112037480, complement). Location: 12q24.1
 OMIM    183090
 3D Structure    ModBase 3D Structure for Q99700
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 Host    Rabbit
 Species Reactivity    Human
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 Form/Format    Phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol
 Concentration    1 mg/ml (lot specific)
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 Other Notes    Small volumes of anti-ATXN2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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 Applications Tested/Suitable for anti-ATXN2 antibody   

ELISA (EIA), Western Blot (WB)

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NCBI/Uniprot data below describe general gene information for ATXN2. It may not necessarily be applicable to this product.
 NCBI GI #    171543895
 NCBI GeneID    6311
 NCBI Accession #    NP_002964.3 [Other Products]
 NCBI GenBank Nucleotide #    NM_002973.3 [Other Products]
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 UniProt Primary Accession #    Q99700 [Other Products]
 UniProt Secondary Accession #    Q6ZQZ7; Q99493; A6NLD4 [Other Products]
 UniProt Related Accession #    Q99700 [Other Products]
 Molecular Weight    140,283 Da
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 NCBI Official Full Name    ataxin-2
 NCBI Official Synonym Full Names    ataxin 2
 NCBI Official Symbol    ATXN2 [Similar Products]
 NCBI Official Synonym Symbols   
ATX2; SCA2; ASL13; TNRC13
[Similar Products]
 NCBI Protein Information    ataxin-2; trinucleotide repeat containing 13; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein
 UniProt Protein Name    Ataxin-2
 UniProt Synonym Protein Names   
Spinocerebellar ataxia type 2 protein; Trinucleotide repeat-containing gene 13 protein
 Protein Family    Ataxin
 UniProt Gene Name    ATXN2 [Similar Products]
 UniProt Synonym Gene Names    ATX2; SCA2; TNRC13 [Similar Products]
 UniProt Entry Name    ATX2_HUMAN
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 NCBI Summary for ATXN2    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. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]
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 UniProt Comments for ATXN2    ataxin-2: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. Defects in ATXN2 are the cause of spinocerebellar ataxia type 2 (SCA2); also known as olivopontocerebellar atrophy II (OPCA II or OPCA2). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease. Defects in ATXN2 are a cause of susceptibility to amyotrophic lateral sclerosis type 13 (ALS13). It is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. An increased risk for developing amyotrophic lateral sclerosis is seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia. Belongs to the ataxin-2 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Translation; RNA-binding

Chromosomal Location of Human Ortholog: 12q24.1

Cellular Component: nucleoplasm; polysome; Golgi apparatus; membrane; stress granule; perinuclear region of cytoplasm; cytoplasm; trans-Golgi network; ribonucleoprotein complex

Molecular Function: protein C-terminus binding; protein binding; RNA binding; epidermal growth factor receptor binding

Biological Process: regulation of translation; stress granule assembly; negative regulation of multicellular organism growth; RNA metabolic process; neuromuscular process; cerebellar Purkinje cell differentiation; homeostasis of number of cells; cytoplasmic mRNA processing body assembly; neurite morphogenesis; negative regulation of receptor internalization; RNA transport

Disease: Parkinson Disease, Late-onset; Spinocerebellar Ataxia 2
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 Research Articles on ATXN2    1. observations suggest that genotyping of SNPs at this locus may be useful for the study of ALS risk in a high percentage of individuals and that ATXN2 and SH2B3 variants may interact in modulating the disease pathway
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with anti-ATXN2 antibodyPathways associated with anti-ATXN2 antibody
 Reference Product  PubMed Publications
 ATXN1 antibody  >6 publications with ATXN2 and ATXN1
 Products by Pathway  Pathway Diagram
 Parkinsons Disease Pathway antibodies  Parkinsons Disease Pathway Diagram
Diseases associated with anti-ATXN2 antibodyOrgans/Tissues associated with anti-ATXN2 antibody
 Disease Name  Pubmed Publications
 Spinocerebellar Ataxias Antibodies  >21 publications with ATXN2 and Spinocerebellar Ataxias
 Kidney Diseases Antibodies  >4 publications with ATXN2 and Kidney Diseases
 Hypertrophy Antibodies  >2 publications with ATXN2 and Hypertrophy
 Immune System Diseases Antibodies  >1 publications with ATXN2 and Immune System Diseases
 Learning Disorders Antibodies  >1 publications with ATXN2 and Learning Disorders
 Heart Diseases Antibodies  >1 publications with ATXN2 and Heart Diseases
 Organ/Tissue Name  Pubmed Publications
 Nerve Antibodies  >32 publications with ATXN2 and Nerve
 Brain Antibodies  >10 publications with ATXN2 and Brain
 Kidney Antibodies  >5 publications with ATXN2 and Kidney
 Blood Antibodies  >4 publications with ATXN2 and Blood
 Muscle Antibodies  >2 publications with ATXN2 and Muscle
 Ovary Antibodies  >1 publications with ATXN2 and Ovary
 Heart Antibodies  >1 publications with ATXN2 and Heart
 Vascular Antibodies  >1 publications with ATXN2 and Vascular
 Eye Antibodies  >1 publications with ATXN2 and Eye
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