Ataxin-2 Products

Description

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 12, and it has been determined that the diseased allele contains 36-52 CAG repeats, compared to 22-23 in the normal allele. A potential transcript variant, missing an internal coding exon, has been described; however, its full-length nature is not certain.

Bioinformatics

Entrez	6311 Human
Uniprot	NP_002964 Human NP_002964.3 Human Q99700 Human
Product By Gene ID	6311
Alternate Names	ataxin 2 ataxin 2) ataxin-2 ATX2spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant SCA2FLJ46772 Spinocerebellar ataxia type 2 protein TNRC13 trinucleotide repeat containing 13 Trinucleotide repeat-containing gene 13 protein

Research Areas for Ataxin-2

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Cellular Markers
Hematopoietic Stem Cell Markers
Stem Cell Markers