Rabbit ATXN2 Polyclonal Antibody | anti-ATXN2 antibody

ATXN2 Polyclonal Antibody

Cat. Num. AAA2565723

• Gene Names: ATXN2; ATX2; SCA2; ASL13; TNRC13
• Reactivity: Human, Mouse, Rat
• Applications: Immunohistochemistry, Immunofluorescence
• Purity: Affinity purification
• Synonyms: ATXN2; Polyclonal Antibody; ATXN2 Polyclonal Antibody; ATX2; SCA2; TNRC13; ataxin-2; anti-ATXN2 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Affinity purification
• Form/Format: PBS with 0.02% sodium azide, 50% glycerol, pH7.3
• Concentration: 1mg/mL (varies by lot)

• Applicable Applications for anti-ATXN2 antibody: Immunohistochemistry (IHC), Immunofluorescence (IF)
• Application Notes: IHC: 1:50-1:200; IF: 1:50-1:200
• Immunogen: A synthetic peptide of human ATXN2
• Conjugation: Unconjugated
• Preparation and Storage: Store at -20 degree C. Avoid freeze/thaw cycles.

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded Rat brain using ATXN2 Polyclonal Antibody at dilution of 1:100 (40x lens).)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded Human colon carcinoma using ATXN2 Polyclonal Antibody at dilution of 1:100 (40x lens).)

Immunofluorescence (IF)

(Immunofluorescence analysis of C6 cells using ATXN2 Polyclonal Antibody at dilution of 1:100. Blue: DAPI for nuclear staining.)

Immunofluorescence (IF)

(Immunofluorescence analysis of L929 cells using ATXN2 Polyclonal Antibody at dilution of 1:100. Blue: DAPI for nuclear staining.)

Immunofluorescence (IF)

(Immunofluorescence analysis of U-2 OS cells using ATXN2 Polyclonal Antibody at dilution of 1:100. Blue: DAPI for nuclear staining.)

Related Product Information for anti-ATXN2 antibody

This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants.

Product Categories/Family for anti-ATXN2 antibody

Polyclonal Antibody

NCBI and Uniprot Product Information

• NCBI GI #: 171543895
• NCBI GeneID: 6311
• NCBI Accession #: NP_002964.3
• NCBI GenBank Nucleotide #: NM_002973.3
• UniProt Accession #: Q99700; Q6ZQZ7; Q99493; A6NLD4
• Molecular Weight: 140,283 Da
• NCBI Official Full Name: ataxin-2
• NCBI Official Synonym Full Names: ataxin 2
• NCBI Official Symbol: ATXN2
• NCBI Official Synonym Symbols: ATX2; SCA2; ASL13; TNRC13
• 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
• Protein Family: Ataxin
• UniProt Gene Name: ATXN2
• UniProt Synonym Gene Names: ATX2; SCA2; TNRC13
• UniProt Entry Name: ATX2_HUMAN

NCBI Description

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 Description

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