Ataxin 1 (ATXN1) (NM_001128164) Human Recombinant Protein

• Background:

  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) . Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]

• Synonyms:

  ATX1; D6S504E; SCA1

• Gene ID:

  6310

• UniProt:

  P54253, Q96FF1

• Accession Number mRNA:

  NM_001128164

• Chromosomal Location:

  6p22.3

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Molecular Weight:

  86.7 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  ATXN1

• Species:

  Human

• Protein ID:

  NP_001121636

• Overview:

  Recombinant protein of human ataxin 1 (ATXN1), transcript variant 2

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/6310

• Uniprot URL:

  https://www.uniprot.org/uniprot/P54253

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_001128164

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_001121636