Gene Symbol | ATXN10 |
Entrez Gene ID | 25814 |
Full Name | ataxin 10 |
Synonyms | E46L,HUMEEP,SCA10 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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 an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia 10, 603516 (3) |