Ataxin 1 (ATXN1) Rabbit Polyclonal Antibody

CAT#: TA360842

ATXN1 Antibody - N-terminal region

Product Images

Host: Rabbit Target Name: ATXN1 Sample Tissue: Human DLD1 Whole Cell lysates Antibody Dilution: 1ug/ml

Specifications

Product Data

• Applications: WB
• Reactivities: Human
• Host: Rabbit
• Clonality: Polyclonal
• Immunogen: The immunogen is a synthetic peptide directed towards the N terminal region of human ATXN1
• Specificity: Expected reactivity: Human
• Formulation: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
• Concentration: lot specific
• Purification: Affinity purified
• Conjugation: Unconjugated
• Storage: For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.
• Predicted Protein Size: 87 kDa
• Gene Name: ataxin 1
• Database Link:
  NP_000323.2
  Entrez Gene 6310 Human
  UniProt ID P54253
• Background: 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.
• Synonyms: ATX1; D6S504E; OTTHUMP00000016065; SCA1