Ataxin 1 (ATXN1) (NM_001128164) Human Recombinant Protein

CAT#: TP326185

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

Product Images

Coomassie blue staining of purified ATXN1 protein (Cat# TP326185). The protein was produced from HEK293T cells transfected with ATXN1 cDNA clone (Cat# RC226185) using MegaTran 2.0 (Cat# TT210002).

Specifications

Product Data

• Species: Human
• Expression Host: HEK293T
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  Recombinant protein was produced with TrueORF clone, RC226185. Click on the TrueORF clone link to view cDNA and protein sequences.
• Tag: C-Myc/DDK
• Predicted MW: 86.7 kDa
• Concentration: >50 ug/mL as determined by microplate BCA method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
• Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
• Storage: Store at -80°C.
• Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.

Reference Data

• RefSeq: NP_001121636
• Locus ID: 6310
• UniProt ID: P54253, Q96FF1
• Cytogenetics: 6p22.3
• Refseq Size: 10587
• Refseq ORF: 2445
• Synonyms: ATX1; D6S504E; SCA1
• 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 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]'