Product Information
Protein Name:Ataxin-1
Human Gene Id:6310
Human Swiss Prot No:P54253
Mouse Gene Id:20238
Mouse Swiss Prot No:P54254
Specificity:Ataxin-1 Polyclonal Antibody detects endogenous levels of Ataxin-1 protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration:1 mg/ml
Storage Stability:-20°C/1 year
Other Name:ATXN1; ATX1; SCA1; Ataxin-1; Spinocerebellar ataxia type 1 protein
Molecular Weight:87051DaObserved Band:87KD
Function:alternative products:At least 2 isoforms are produced,disease:Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier
Subcellular Location:Cytoplasm . Nucleus . Colocalizes with USP7 in the nucleus. .
Expression:Widely expressed throughout the body.
Background:ataxin 1(ATXN1) Homo sapiens 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