• Target：
• Ataxin-1

• Fields：
• >>Notch signaling pathway;>>Spinocerebellar ataxia;>>Pathways of neurodegeneration - multiple diseases

• Gene Name：
• ATXN1

• Protein Name：
• Ataxin-1

• Human Gene Id：
• 6310

• Human Swiss Prot No：
• P54253

• Mouse Swiss Prot No：
• P54254

• Immunogen：
• Purified recombinant fragment of human Ataxin-1 expressed in E. Coli.

• Specificity：
• Ataxin-1 Monoclonal Antibody detects endogenous levels of Ataxin-1 protein.

• Formulation：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• Source：
• Monoclonal, Mouse

• Dilution：
• WB 1:500 - 1:2000. IHC 1:200 - 1:1000. IF 1:200 - 1:1000. Flow cytometry: 1:200 - 1:400. ELISA: 1:10000. Not yet tested in other applications.

• Purification：
• Affinity purification

• Storage Stability：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• Other Name：
• ATXN1;ATX1;SCA1;Ataxin-1;Spinocerebellar ataxia type 1 protein

• Molecular Weight(Da)：
• 87kD

• References：
• 1. Nature. 2008 Apr 10;452(7188):713-8.
  2. Biochem Biophys Res Commun. 2008 Jun 27;371(2):256-60.
  3. Indian J Med Res. 2007 Nov;126(5):465-70.

• Background：
• ataxin 1(ATXN1) Homo sapiens 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

• Function：
• alternative products:At least 2 isoforms are produced,disease:Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). 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. SCA1 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. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier

• Subcellular Location：
• Cytoplasm . Nucleus . Colocalizes with USP7 in the nucleus. .

• Expression：
• Widely expressed throughout the body.

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