Entrez gene ID | | 25814 |
Official gene symbol | | ATXN10 |
Full name | | ataxin 10 |
Aliases | | ,E46L,FLJ37990,HUMEEP,SCA10, |
Gene summary | | This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described. |
Location | | Chromosome: 22 Locus: 22q13.31 |
Gene position | | 46067678 - 46241187 Map Viewer |
Gene orientation | | plus |
Gene size | | 173510 bp |
Gene sequence |
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OMIM ID | | 611150 |
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