Ataxin 10 (ATXN10) Antibody – Rabbit Polyclonal

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]

ataxin-10: 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. Defects in ATXN10 are the cause of spinocerebellar ataxia type 10 (SCA10). 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). Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia. Belongs to the ataxin-10 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 22q13.31

Cellular Component: extracellular space; membrane; cell soma; perinuclear region of cytoplasm; dendrite; cytoplasm; plasma membrane; cytosol

Molecular Function: identical protein binding; protein binding

Biological Process: nervous system development; neurite development

Disease: Spinocerebellar Ataxia 10