human ATXN1 Adenovirus

alternative ataxin1; ataxin-1; ATX1; D6S504E; SCA1; spinocerebellar ataxia type 1 protein

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 [taken from the Universal Protein Resource (UniProt) www.uniprot.org/uniprot/P54253].

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.

6310

ataxin 1

ataxin 1

ATXN1

HGNC:10548

9606.0

2448

2448 bp

Ataxin-1

NM_000332

NM_001128164, NM_000332, BC117125,

Apoptosis,Neurobiology,Neurodegeneration,RNA Binding,RNA Processing,Transcription Factor/Regulator,Transport

cell_biology,neurobiology,genetics,transcription_translation,cell_biology

human

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 [taken from the Universal Protein Resource (UniProt) www.uniprot.org/uniprot/P54253].

Hs.434961

P54253