background:
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.
Function:
Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.
Subunit:
Homooligomer. Interacts with OGT. Interacts with GNB2. Interacts with IQCB1.
Subcellular Location:
Cytoplasm, perinuclear region.
Tissue Specificity:
Expressed in the central nervous system.
DISEASE:
Defects in ATXN10 are the cause of spinocerebellar ataxia type 10 (SCA10) [MIM:603516]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA).
Similarity:
Belongs to the ataxin-10 family.
Database links:
Entrez Gene: 25814 Human
Entrez Gene: 54138 Mouse
Omim: 611150 Human
SwissProt: Q9UBB4 Human
SwissProt: P28658 Mouse
SwissProt: Q5RE06 Orangutan
Unigene: 475125 Human
Unigene: 248906 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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