Ataxin 1 (ATXN1) (N-Term) Peptide
ATXN1
Reactivity: Human
Host: Synthetic
BP, WB
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- Target See all Ataxin 1 (ATXN1) products
- Ataxin 1 (ATXN1)
- Protein Region
- N-Term
- Origin
- Human
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Source
- Synthetic
- Application
- Blocking Peptide (BP), Western Blotting (WB)
- Sequence
- TAWLPGNPGG RGHGGGRHGP AGTSVELGLQ QGIGLHKALS TGLDYSPPSA
- Characteristics
- This is a synthetic peptide designed for use in combination with anti- ATXN1 Antibody. It may block above mentioned antibody from binding to its target protein in western blot and/or immunohistochecmistry under proper experimental settings. There is no guarantee for its use in other applications.
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- Application Notes
- Optimal working dilution should be determined by the investigator.
- Restrictions
- For Research Use only
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- Format
- Lyophilized
- Reconstitution
- Add 100 μL of sterile PBS. Final peptide concentration is 1 mg/mL in PBS.
- Storage
- -20 °C
- Storage Comment
- For longer periods of storage, store at -20°C. Avoid repeat freeze-thaw cycles.
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- Target
- Ataxin 1 (ATXN1)
- Background
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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.
Alias Symbols: ATX1, SCA1, D6S504E
Protein Size: 815 - Gene ID
- 6310
- NCBI Accession
- NM_000332, NP_000323
- UniProt
- P54253
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