ATXN1
ataxin 1
Synonyms:
ATX1, D6S504E, SCA1
Species:
Human ATXN1 (6310), Mouse Atxn1 (20238), Rat Atxn1 (25049), chicken ATXN1 (420843), cow ATXN1 (616399), Horse ATXN1 (100065748), domestic cat ATXN1 (493678), domestic cat ATXN1 (101092517), dog ATXN1 (488232), naked mole-rat Atxn1 (101710194) ...More
UniProtKB ID:
Gene 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
- chicken(420843) ataxin 1
- cow(616399) ataxin 1
- Horse(100065748) ataxin 1
- domestic cat(493678) ataxin 1
- domestic cat(101092517) ataxin 1
- dog(488232) ataxin 1
- naked mole-rat(101710194) ataxin 1
- domestic guinea pig(100719683) ataxin 1
- sheep(101113284) ataxin 1
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-Ataxin 1, C-Terminal antibody produced in rabbit, affinity isolated antibody,
Species Reactivity
human, mouse
Application
ELISA
immunofluorescence
immunohistochemistry
immunofluorescence
immunohistochemistry
Monoclonal Anti-Ataxin - Percp antibody produced in mouse, clone S76-8, purified immunoglobulin,
Species Reactivity
human, mouse, rat
Application
immunohistochemistry
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Monoclonal Anti-Ataxin 1 - Rpe antibody produced in mouse, clone S65-37, purified immunoglobulin,
Species Reactivity
human, mouse, rat
Application
immunocytochemistry
western blot
western blot
Monoclonal Anti-Ataxin - Biotin antibody produced in mouse, clone S76-8, purified immunoglobulin,
Species Reactivity
human, mouse, rat
Application
immunohistochemistry
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Monoclonal Anti-Ataxin - Atto 488 antibody produced in mouse, clone S76-8, purified immunoglobulin,
Species Reactivity
human, mouse, rat
Application
immunohistochemistry
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot