Gene: ATXN10
Alternate names for this Gene: E46L|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 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.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.31
Description of this Gene: ataxin 10
Type of Gene: protein-coding