Ataxin 1 产品
(Ataxin 1 (ATXN1))
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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. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010].
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Ataxin 1 抗体
High quality antibodies with extensive validation data.
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Ataxin 1 蛋白
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Latest Publications for our Ataxin 1 Products
: "Scaffold function of long non-coding RNA HOTAIR in protein ubiquitination." in: Nature communications, Vol. 4, pp. 2939, (2013) (PubMed).: "The role of interruptions in polyQ in the pathology of SCA1." in: PLoS genetics, Vol. 9, Issue 7, pp. e1003648, (2013) (PubMed).
: "Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein." in: The Journal of biological chemistry, Vol. 285, Issue 12, pp. 8515-26, (2010) (PubMed).
: "Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1." in: Nature, Vol. 452, Issue 7188, pp. 713-8, (2008) (PubMed).
: "Polyglutamine expansion accelerates the dynamics of ataxin-1 and does not result in aggregate formation." in: PLoS ONE, Vol. 3, Issue 1, pp. e1503, (2008) (PubMed).
: "The DNA sequence and analysis of human chromosome 6. ..." in: Nature, Vol. 425, Issue 6960, pp. 805-11, (2003) (PubMed).
: "Identification of a self-association region within the SCA1 gene product, ataxin-1." in: Human molecular genetics, Vol. 6, Issue 4, pp. 513-8, (1997) (PubMed).
: "The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1." in: Nature, Vol. 389, Issue 6654, pp. 974-8, (1997) (PubMed).
: "A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1." in: Human molecular genetics, Vol. 4, Issue 12, pp. 2411-3, (1996) (PubMed).
: "Identification and characterization of the gene causing type 1 spinocerebellar ataxia." in: Nature genetics, Vol. 7, Issue 4, pp. 513-20, (1994) (PubMed).
Synonyms and alternative names related to Ataxin 1
ataxin 1 (ATXN1), ataxin 1b (atxn1b), ataxin 1 (Atxn1), Ataxin 1 (Atx-1), 2900016G23Rik, ataxin 1b, ATX1, Atx1, ATXN1, atxn1, C85907, CG4547, D6S504E, dAtx-1, dAtx1, Dmel\\CG4547, ENSMUSG00000074917, Gm10786, SCA1, Sca1, sca1Protein level used designations for Ataxin 1
- ataxin-1
- spinocerebellar ataxia type 1 protein
- ataxin 1
- spinocerebellar ataxia type 1
- spinocerebellar ataxia 1 homolog
- spinocerebellar ataxia 1
- spinocerebellar ataxia type 1 protein homolog
- Ataxin1
- Atx-1-PB
- CG4547-PB
- spinocerebellar ataxia type 1 protien
- ataxin-1-like
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