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.
ATXN10; ataxin 10; SCA10, spinocerebellar ataxia 10; ataxin-10; E46L; FLJ37990; ATX10_HUMAN; Brain protein E46 homolog; HUMEEP; Like mouse brain protein E46; OTTHUMP00000197383; SCA10; Spinocerebellar ataxia 10; Spinocerebellar ataxia type 10 protein; E46L, SCA10, HUMEEP; si:dkeyp-15g12.2