Symbol: Name: ID: |
ATXN2 ataxin 2 GFS:488 |
Gene name: | ATXN2 |
Chromosome: | 12q23-q24.1 |
Previous Symbols: | SCA2, TNRC13 |
Previous Names: | spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) |
Aliases: | ATX2 |
Name Aliases: | trinucleotide repeat containing 13 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1277223 | Rat Genome Database ID: | RGD:1306637 |
HGNC ID: | HGNC:10555 | RefSeq IDs: | NM_002973 |
Entrez Gene ID: | 6311 | Ensembl Gene ID: | ENSG00000204842 |
VEGA IDs: | OTTHUMG00000133475 | UniProt ID: | Q99700 |
UCSC ID: | uc001tsj.2 | OMIM ID: | 601517 |
Pubmed: | PMID8358438 PMID 9225980 | ||
CCDS IDs: | CCDSCCDS31902.1 |
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. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 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. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for ATXN2 gene
Catalog | Product Name | Application | Company |
GFS:E00488 | ataxin 2; ELISA kit | ELISA | n/a |
GFS:A00488 | ataxin 2; Anti | ANTIBODIES | n/a |
GFS:P00488 | ataxin 2; Protien | Protien | n/a |