ATXN2
ataxin 2
Sinónimos:
ASL13, ATX2, SCA2, TNRC13
Especie:
Human ATXN2 (6311), Mouse Atxn2 (20239), Rat Atxn2 (288663), domestic guinea pig Atxn2 (100729317), Horse ATXN2 (100057794), cow ATXN2 (532649), sheep ATXN2 (101106796), naked mole-rat Atxn2 (101726106), Zebrafish atxn2 (569210), chicken ATXN2 (416877) ...Más
ID UniProtKB:
ID del gen:
- Human(6311) 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. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]
- Mouse(20239) ataxin 2
- Rat(288663) ataxin 2
- domestic guinea pig(100729317) ataxin 2
- Horse(100057794) ataxin 2
- cow(532649) ataxin 2
- sheep(101106796) ataxin 2
- naked mole-rat(101726106) ataxin 2
- Zebrafish(569210) ataxin 2
- chicken(416877) ataxin 2
- dog(486270) ataxin 2
- domestic cat(101101418) ataxin 2
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Antibodies
Referencia del producto
Descripción
Reactividad de especies
Aplicación
Anti-ATXN2 antibody produced in rabbit, affinity isolated antibody, buffered aqueous glycerol solution, Ab3,
Reactividad de especies
human
Aplicación
immunohistochemistry
western blot
western blot
Anti-ATXN2 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution, Ab2,
Reactividad de especies
human
Aplicación
immunohistochemistry
Anti-ATXN2 antibody produced in rabbit, affinity isolated antibody,
Reactividad de especies
bovine, dog, guinea pig, horse, human, mouse, rat
Aplicación
immunohistochemistry
western blot
western blot
Anti-ATXN2 antibody produced in rabbit, affinity isolated antibody,
Reactividad de especies
human
Aplicación
ELISA
western blot
western blot
Anti-ATXN2 Antibody, clone 3N14 ZooMAb® Rabbit Monoclonal, recombinant, expressed in HEK 293 cells,
Reactividad de especies
human, monkey, rat
Aplicación
affinity binding assay
immunocytochemistry
immunohistochemistry
western blot
immunocytochemistry
immunohistochemistry
western blot