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Product Details
H00006310-M02
Product Specifications
Species Reactivity
Human
Host/Isotype
Mouse
/ IgG2b, kappa
Class
Monoclonal
Type
Antibody
Clone
4C5
Immunogen
ATXN1 (NP_000323, 576 a.a. approximately 675 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Conjugate
Form
Liquid
Concentration
See Label
Purification
Affinity chromatography
Storage buffer
PBS, pH 7.4
Contains
no preservative
Storage conditions
-20°C, Avoid Freeze/Thaw Cycles
Shipping conditions
Ambient (domestic); Wet ice (international)
Product Specific Information
Sequence of this protein is as follows: KGSIIQLANG ELKKVEDLKT EDFIQSAEIS NDLKIDSSTV ERIEDSHSPG VAVIQFAVGE HRAQVSVEVL VEYPFFVFGQ GWSSCCPERT SQLFDLPCSK
Target Information
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 41-81 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: alternative ataxin1; Ataxin-1; OTTHUMP00000016065; Spinocerebellar ataxia type 1 protein
Gene Aliases: ATX1; ATXN1; D6S504E; SCA1
UniProt ID: (Human) P54253
Entrez Gene ID: (Human) 6310
Performance Guarantee
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