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

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Catalog # MBS000850
Unit / Price
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  0.1 mL  /  $440 +1 FREE 8GB USB
  0.2 mL  /  $715 +1 FREE 8GB USB
anti-ATXN2 antibody
Product Name

ATXN2, Antibody

Popular Item
Full Product Name

Rabbit ATXN2 Antibody

Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Chromosome Location
Chromosome: 12; NC_000012.11 (111890018..112037480, complement). Location: 12q24.1
OMIM
183090
3D Structure
ModBase 3D Structure for Q99700
Host
Rabbit
Species Reactivity
Human
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)
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.
Applications Tested/Suitable for anti-ATXN2 antibody
ELISA (EIA), Western Blot (WB)
NCBI/Uniprot data below describe general gene information for ATXN2. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
NCBI GenBank Nucleotide #
UniProt Primary Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
140,283 Da
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
UniProt Gene Name
ATXN2  [Similar Products]
UniProt Synonym Gene Names
ATX2; SCA2; TNRC13  [Similar Products]
UniProt Entry Name
ATX2_HUMAN
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]
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
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.

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Products associated with anti-ATXN2 antibody
 Reference Product  PubMed Publications
 ATXN1 antibody  >6 publications with ATXN2 and ATXN1
Pathways associated with anti-ATXN2 antibody
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