Ataxin 1 (ATXN1) (Ser776) Peptide

Details for Product No. ABIN693704
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Protein Name
Synonyms ATX1, SCA1, D6S504E, 2900016G23Rik, Atx1, C85907, ENSMUSG00000074917, Gm10786, Sca1, sca1, ATXN1, ataxin 1b, atxn1, CG4547, Dmel\\CG4547, dAtx-1, dAtx1
Protein Region
Ser776
Application
Blocking Peptide (BP)
Pubmed 2 references available
Catalog no. ABIN693704
Quantity 0.1 mg
Price
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Immunogen Synthetic peptide
Specificity The synthetic peptide sequence used to generate the antibody AP2808a was selected from the S776 region of human ATXN1. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.
Alternative Name ATXN1
Background 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 to successive generations. The function of the ataxins is not known.
Comment

Background: 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 to successive generations. The function of the ataxins is not known.

Restrictions For Research Use only
Storage 4 °C/-20 °C
Storage Comment Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles
Expiry Date 6 months
Background publications Lim, Crespo-Barreto, Jafar-Nejad et al.: "Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1." in: Nature, Vol. 452, Issue 7188, pp. 713-8, 2008 (PubMed).

Hong, Lee, Cho et al.: "UbcH6 interacts with and ubiquitinates the SCA1 gene product ataxin-1." in: Biochemical and biophysical research communications, Vol. 371, Issue 2, pp. 256-60, 2008 (PubMed).

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