|Other Names||Ataxin-1, Spinocerebellar ataxia type 1 protein, ATXN1, ATX1, SCA1|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP3592a was selected from the region of human Phospho-ATXN1-pS776. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism.|
|Cellular Location||Cytoplasm. Nucleus Note=Colocalizes with USP7 in the nucleus|
|Tissue Location||Widely expressed throughout the body.|
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The function of the ataxins is not known. 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.
Lim,J., Nature 452 (7188), 713-718 (2008)Krol,H.A., PLoS ONE 3 (1), E1503 (2008)
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