靶标:
ATXN10
产品别名:
ATX10; E46L; HUMEEP; SCA10; ATXN10; ataxin 10; ataxin 10; ataxin-10; brain protein E46 homolog; spinocerebellar ataxia type 10 protein; 失调蛋白10(ATXN10); 脊髓小脑共济失调10;
背景信息:
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],