ATXN1
ataxin 1
别名:
ATX1, D6S504E, SCA1
物种:
Human ATXN1 (6310), Mouse Atxn1 (20238), Rat Atxn1 (25049), sheep ATXN1 (101113284), domestic cat ATXN1 (493678), domestic cat ATXN1 (101092517), chicken ATXN1 (420843), domestic guinea pig Atxn1 (100719683), Horse ATXN1 (100065748), naked mole-rat Atxn1 (101710194) ...展开
UniProtKB ID:
基因ID:
- Human(6310) Summary: 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]
- Mouse(20238) ataxin 1
- Rat(25049) ataxin 1
- sheep(101113284) ataxin 1
- domestic cat(493678) ataxin 1
- domestic cat(101092517) ataxin 1
- chicken(420843) ataxin 1
- domestic guinea pig(100719683) ataxin 1
- Horse(100065748) ataxin 1
- naked mole-rat(101710194) ataxin 1
- cow(616399) ataxin 1
- dog(488232) ataxin 1
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Antibodies
Product Number
说明
物种反应性
应用
Anti-Ataxin 1, C-Terminal antibody produced in rabbit, affinity isolated antibody,
物种反应性
human, mouse
应用
ELISA
immunofluorescence
immunohistochemistry
immunofluorescence
immunohistochemistry
Anti-ATXN1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
物种反应性
human
应用
immunohistochemistry
Anti-ATXN1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody,
物种反应性
human
应用
immunofluorescence
Monoclonal Anti-Ataxin 1 - Apc antibody produced in mouse, clone S65-37, purified immunoglobulin,
物种反应性
human, mouse, rat
应用
immunocytochemistry
western blot
western blot