Ataxin 1 (ATXN1) (NM_001128164) Human Mass Spec Standard

CAT#: PH326185

ATXN1 MS Standard C13 and N15-labeled recombinant protein (NP_001121636)



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CNY 19,520.00


货期*
4周

规格
    • 10 ug

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Transient overexpression lysate of ataxin 1 (ATXN1), transcript variant 1
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Specifications

Product Data
Description ATXN1 MS Standard C13 and N15-labeled recombinant protein (NP_001121636)
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC226185
Predicted MW 86.9 kDa
Protein Sequence
Tag C-Myc/DDK
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration >0.05 µg/µL as determined by microplate BCA method
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq NP_001121636
RefSeq Size 10587
RefSeq ORF 2445
Synonyms ATX1; D6S504E; SCA1
Locus ID 6310
Cytogenetics 6p22.3
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]
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