Recombinant Full Length Human ATXN1 Protein, C-Flag-tagged

• Cat.No.: ATXN1-372HFL
• Product Overview: Recombinant Full Length Human ATXN1 Protein, fused to Flag-tag at C-terminus, was expressed in Mammalian cells.

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). 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.
• Source: Mammalian cells
• Species: Human
• Tag: Flag
• Form: 25 mM Tris HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 86.7 kDa
• AA Sequence: MKSNQERSNECLPPKKREIPATSRS SEEKAPTLPSDNHRVEGTAWLPGNP GGRGHGGGRHGPAGTSVELG LQQGIGLHKALSTGLDYSPPSAPRS VPVATTLPAAYATPQPGTPVSPVQY AHLPHTFQFIGSSQYSGTYA SFIPSQLIPPTANPVTSAVASAAGA TTPSQRSQLEAYSTLLANMGSLSQT PGHKAEQQQQQQQQQQQQHQ HQQQQQQQQQQQQQQHLSRAPGLIT PGSPPPAQQNQYVHISSSPQNTGRT ASPPAIPVHLHPHQTMIPHT LTLGPPSQVVMQYADSGSHFVPREA TKKAESSRLQQAIQAKEVLNGEMEK SRRYGAPSSADLGLGKAGGK SVPHPYESRHVVVHPSPSDYSSRDP SGVRASVMVLPNSNTPAADLEVQQA THREASPSTLNDKSGLHLGK PGHRSYALSPHTVIQTTHSASEPLP VGLPATAFYAGTQPPVIGYLSGQQQ AITYAGSLPQHLVIPGTQPL LIPVGSTDMEASGAAPAIVTSSPQF AAVPHTFVTTALPKSENFNPEALVT QAAYPAMVQAQIHLPVVQSV ASPAAAPPTLPPYFMKGSIIQLANG ELKKVEDLKTEDFIQSAEISNDLKI DSSTVERIEDSHSPGVAVIQ FAVGEHRAQVSVEVLVEYPFFVFGQ GWSSCCPERTSQLFDLPCSKLSVGD VCISLTLKNLKNGSVKKGQP VDPASVLLKHSKADGLAGSRHRYAE QENGINQGSAQMLSENGELKFPEKM GLPAAPFLTKIEPSKPAATR
  KRRWSAPESRKLEKSEDEPPLTLPK PSLIPQEVKICIEGRSNVGKTRTRP LEQKLISEEDLAANDILDYKDDDDK V
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining.
• Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
• Storage: Store at -80 centigrade.
• Concentration: >50 ug/mL as determined by microplate BCA method.
• Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.

Gene Information

• Gene Name: ATXN1 ataxin 1 [ Homo sapiens (human) ]
• Official Symbol: ATXN1
• Synonyms: ATX1; SCA1; D6S504E
• Gene ID: 6310
• mRNA Refseq: NM_000332.4
• Protein Refseq: NP_000323.2
• MIM: 601556
• UniProt ID: P54253