ATXN1 polyclonal antibody
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Specifications
Product Description
Goat polyclonal antibody raised against synthetic peptide of ATXN1.
Immunogen
A synthetic peptide corresponding to amino acids at internal region of human ATXN1.
Sequence
C-DLEVQQATHREASP
Host
Goat
Theoretical MW (kDa)
86.9
Specificity
Reported variant NP_000323.2 and NP_001121636.1 represent identical protein.
Form
Liquid
Purification
Antigen affinity purification
Concentration
0.5 mg/mL
Recommend Usage
ELISA (1:64000)
The optimal working dilution should be determined by the end user.Storage Buffer
In Tris saline, pH 7.3 (0.5% BSA, 0.02% sodium azide)
Storage Instruction
Store at -20°C.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Enzyme-linked Immunoabsorbent Assay
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Gene Info — ATXN1
Entrez GeneID
6310Protein Accession#
NP_000323.2Gene Name
ATXN1
Gene Alias
ATX1, D6S504E, SCA1
Gene Description
ataxin 1
Gene Ontology
HyperlinkGene 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. At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq
Other Designations
OTTHUMP00000016065|OTTHUMP00000039306|olivopontocerebellar ataxia 1, autosomal dominant|spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
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Interactomes
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Diseases
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Publication Reference
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Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY.
Nature Genetics 1994 Aug; 7(4):513.
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Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
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