Ataxin 1 Products

Description

Defects in Ataxin-1 are the cause of spinocerebellar ataxia type 1 (SCA1), also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). 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 is caused by expansion of a CAG repeat in the coding region of the ataxin-1 gene. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Ataxin-1 binds RNA in vitro and may be involved in RNA metabolism. [Uniprot]

Bioinformatics

Entrez	6310 Human
Uniprot	NP_000323 Human NP_000323.2 Human NP_001121636 Human P54253 Human
Product By Gene ID	6310
Alternate Names	ataxin 1 ataxin 1) ataxin-1 ATX1spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant SCA1D6S504E Spinocerebellar ataxia type 1 protein

Research Areas for Ataxin 1

Find related products by research area and learn more about each of the different research areas below.

Phospho-Specific

Related Ataxin 1 Blog Posts

Check out the latest blog posts on Ataxin 1.

ATXN2 Identified as New Genetic Risk Factor for Lou Gehrig's Disease (ALS) Ataxin antibodies are used in the study of autosomal dominant cerebellar ataxia (ADCA) diseases. These neurodegenerative disorders are highly heterogeneous, characterized by progressive, irreversible, atrophy of the cerebellum and spinal cord.Ataxin...    Read more.

Read more Ataxin 1 related blogs.