Description
Product Characteristics:
Spinocerebellar ataxia (SCA) is an autosomal dominant neurodegenerative disorder characterized by ataxia and selective neuronal cell loss. SCA is caused by the expansion of a translated CAG repeat, encoding a polyglutamine tract in SCA gene products, known as ataxins. The ataxin proteins are ubiquitously expressed in nervous tissue, but are primarily detected in cerebellum, brain stem and spinal cord in the central nervous system. Ataxin-10 is a cytoplasmic protein that belongs to the family of armadillo repeat proteins. A loss of ataxin-10 in primary neuronal cells causes increased apoptosis of cerebellar neurons. Ataxin-10 interacts with p110, an O-Linked beta-N-acetylglucosamine transferase, and may be important in the regulation of intracellular glycosylation levels and homeostasis in the brain. Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder that causes cerebellar ataxia and seizures. SCA10 is caused by an expansion of an ATTCT pentanucleotide repeat in intron 9 of the ataxin-10 gene.
Subcellular location: Cytoplasm
Synonyms: Ataxin 10, Ataxin-10, ATX10_HUMAN, Atxn10, Brain protein E46 homolog, E46L, FLJ37990, HUMEEP, Like mouse brain protein E46, SCA10, Spinocerebellar ataxia 10, Spinocerebellar ataxia type 10 protein.
Target Information: 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.[provided by RefSeq, Nov 2009]