Recombinant Human ATXN1 protein, GST-tagged

• Cat.No.: ATXN1-1029H
• Product Overview: Human ATXN1 partial ORF ( NP_000323, 576 a.a. - 675 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• 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 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 36.74 kDa
• AA Sequence: KGSIIQLANGELKKVEDLKTEDFIQ SAEISNDLKIDSSTVERIEDSHSPG VAVIQFAVGEHRAQVSVEVLVEYPF FVFGQGWSSCCPERTSQLFDLPCSK
• Applications: Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: ATXN1 ataxin 1 [ Homo sapiens ]
• Official Symbol: ATXN1
• Synonyms: ATXN1; ataxin 1; SCA1, spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1); ataxin-1; ATX1; D6S504E; spinocerebellar ataxia type 1 protein; SCA1
• Gene ID: 6310
• mRNA Refseq: NM_000332
• Protein Refseq: NP_000323
• MIM: 601556
• UniProt ID: P54253