ELISA/assay

Human ATXN2 (Ataxin 2) ELISA Kit

MBS2503571

24-Strip-Wells

215 USD

ELISA Kit

Human ATXN2 (Ataxin 2) ELISA Kit

[ATXN2]

[ataxin-2; Ataxin-2; ataxin-2; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein; ataxin 2; Spinocerebellar ataxia type 2 protein; Trinucleotide repeat-containing gene 13 protein]

[ATXN2]

[ATXN2; ATXN2; ATX2; SCA2; ASL13; TNRC13; ATX2; SCA2; TNRC13]

ATX2_HUMAN

Human

1313

This kit recognizes natural and recombinant Human ATXN2. No significant cross-reactivity or interference between Human ATXN2 and analogues was observed.

Store at 4 degree C.

Typical Testing Data/Standard Curve (for reference only)

Samples: Serum, Plasma, Biological Fluids. Assay Type: Sandwich. Detection Range: 0.781-50ng/mL. Sensitivity: Min: 0.469ng/mL; Max: 50ng/mL

Intended Uses This ELISA kit applies to the in vitro quantitative determination of Human ATXN2 concentrations in serum, plasma and other biological fluids. Principle of the Assay: This ELISA kit uses Sandwich-ELISA as the method. The micro ELISA plate provided in this kit has been pre-coated with an antibody specific to ATXN2. Standards or samples are added to the appropriate micro ELISA plate wells and combined with the specific antibody. Then a biotinylated detection antibody specific for ATXN2 and Avidin-Horseradish Peroxidase (HRP) conjugate is added to each micro plate well successively and incubated. Free components are washed away. The substrate solution is added to each well. Only those wells that contain ATXN2, biotinylated detection antibody and Avidin-HRP conjugate will appear blue in color. The enzyme-substrate reaction is terminated by the addition of a sulphuric acid solution and the color turns yellow. The optical density (OD) is measured spectrophotometrically at a wavelength of 450 nm +/- 2 nm. The OD value is proportional to the concentration of ATXN2. You can calculate the concentration of ATXN2 in the samples by comparing the OD of the samples to the standard curve.

171543895

NP_002964.3

NM_002973.3

Q99700

109,037 Da

Parkinsons Disease Pathway (705377)

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]

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: RNA-binding; Translation. Chromosomal Location of Human Ortholog: 12q24.1. Cellular Component: nucleoplasm; polysome; Golgi apparatus; membrane; perinuclear region of cytoplasm; stress granule; 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; RNA transport; negative regulation of receptor internalization. Disease: Parkinson Disease, Late-onset; Spinocerebellar Ataxia 2

24-Strip-Wells

215 USD

48-Strip-Wells

410

96-Strip-Wells

490

5x96-Strip-Wells

2040

10x96-Strip-Wells

3590