anti-Ataxin 1 Antikörper

Protein Überblick

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.

Alternative names and synonyms associated with Ataxin 1 (ATXN1)

• ataxin 1 (ATXN1) Antikörper
• ataxin 1b (atxn1b) Antikörper
• ataxin 1 (Atxn1) Antikörper
• Ataxin 1 (Atx-1) Antikörper

• 2900016G23Rik Antikörper
• ataxin 1b Antikörper
• Atx1 Antikörper
• atxn1 Antikörper
• C85907 Antikörper
• Alle Synonyme
• CG4547 Antikörper
• D6S504E Antikörper
• dAtx-1 Antikörper
• dAtx1 Antikörper
• Dmel\\CG4547 Antikörper
• ENSMUSG00000074917 Antikörper
• Gm10786 Antikörper
• sca1 Antikörper

Bezeichner auf Proteinebene für anti-Ataxin 1 (ATXN1) Antikörper

ataxin-1 , spinocerebellar ataxia type 1 protein , ataxin 1 , spinocerebellar ataxia type 1 , spinocerebellar ataxia 1 homolog , spinocerebellar ataxia 1 , spinocerebellar ataxia type 1 protein homolog , Ataxin1 , Atx-1-PB , CG4547-PB , spinocerebellar ataxia type 1 protien , ataxin-1-like