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.
Immunogen Information
Immunogen
Recombinant protein of human ATXN1
Swissprot
P54253
Synonyms
alternative ataxin1Ataxin-1ATX1ATX1Atxn1D6S504EOTTHUMP00000016065SCA1Spinocerebellar ataxia type 1 protein
Gene Accession
BC117125
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
IHC,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:50-1:200
Concentration
0.4 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4