Abnova™ Human ATXN1 Partial ORF (NP_000323, 576 a.a. - 675 a.a.) Recombinant Protein with GST-tag at N-terminal

Used for AP, Array, ELISA, WB-Re

Supplier:  Abnova™ H00006310Q01L

Catalog No. 89-936-146

Description

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]

Sequence: KGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSK

Specifications

• Accession Number: NP_000323
• Formulation: 50mM Tris-HCI, 10mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Weight (g/mol): 36.74kDa
• Quality Control Testing: 12.5% SDS-PAGE Stained with Coomassie Blue.
• Immunogen: KGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSK
• Regulatory Status: RUO
• Common Name: ATXN1
• Species: Wheat Germ (in vitro)
• Protein Tag: GST
• Form: Liquid

• For Use With (Application): Antibody Production, ELISA, Protein Array, Western Blot
• Gene ID (Entrez): 6310
• Name: ATXN1 (Human) Recombinant Protein (Q01)
• Quantity: 25 ug
• Storage Requirements: Store at -80°C. Aliquot to avoid repeated freezing and thawing.
• Gene Alias: ATX1/D6S504E/SCA1
• Gene Symbol: ATXN1
• Recombinant: Recombinant
• Expression System: wheat germ expression system