ATXN1 (Human) Recombinant Protein (Q01)
* The price is valid only in USA. Please select country.
-
More Files
- More Functions
-
Specification
Product Description
Human ATXN1 partial ORF ( NP_000323, 576 a.a. - 675 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
KGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSK
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
36.74
Interspecies Antigen Sequence
Mouse (92); Rat (100)
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
-
Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
-
Gene Info — ATXN1
Entrez GeneID
6310GeneBank Accession#
NM_000332Protein Accession#
NP_000323Gene 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)
-
Interactome
-
Disease
-
Publication Reference
-
Scaffold function of long non-coding RNA HOTAIR in protein ubiquitination.
Yoon JH, Abdelmohsen K, Kim J, Yang X, Martindale JL, Tominaga-Yamanaka K, White EJ, Orjalo AV, Rinn JL, Kreft SG, Wilson GM, Gorospe M.
Nature Communications 2013 Dec; 4:2939.
Application:Ubiquitination assay, Human, HeLa cells.
-
Scaffold function of long non-coding RNA HOTAIR in protein ubiquitination.
- +1-909-264-1399
+1-909-992-0619
Toll Free : +1-877-853-6098 - +1-909-992-3401
- sales@abnova.com