ataxin 1(ATXN1)Homo sapiens. 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
Catalog No
N0050
Reactivity
Human
Applications
WB,IHC-p,IF/ICC,FCM,ELISA
Modification
Unmodfied/ Total
Source
Monoclonal Mouse
Dilution
Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/200 - 1/1000. Immunofluorescence: 1/200 - 1/1000. Flow cytometry: 1/200 - 1/400. ELISA: 1/10000. Not yet tested in other applications.
Purification
Affinity purification
Concentration
Storage and Stability
-20°C/1 year
Other Name
ATXN1; ATX1; SCA1; Ataxin-1; Spinocerebellar ataxia type 1 protein
Molecular Weight (Da)
Gene Name
ATXN1
Protein Name
Ataxin-1
Human Gene ID
6310
Human Swiss Prot No.
P54253
Immunogen
Purified recombinant fragment of human Ataxin-1 expressed in E. Coli.
Specificity
Ataxin-1 Monoclonal Antibody detects endogenous levels of Ataxin-1 protein.
Immunofluorescence analysis of NTERA-2 cells using Ataxin-1 Monoclonal Antibody (green). Blue: DRAQ5 fluorescent DNA dye. Red: Actin filaments have been labeled with Alexa Fluor-555 phalloidin.
Immunohistochemistry analysis of paraffin-embedded ovarian cancer tissues (left) and lung cancer tissues (right) with DAB staining using Ataxin-1 Monoclonal Antibody.
