ATXN1 Antibody – Rabbit Polyclonal

ataxin-1: spinocerebellar ataxia type 1 (SCA1) protein. Expansion of CAG repeats in the SCA1 gene results in an abnormally long polyglutamine tract in the protein, causing polyglutamine-induced neurodegeneration. 14-3-3 and Akt kinase stabilize both wild-type and mutant forms of ataxin-1. The expansion of the polyglutamine tract may alter this function.

Protein type: RNA-binding; Nuclear export

Chromosomal Location of Human Ortholog: 6p23

Cellular Component: nucleoplasm; nuclear RNA export factor complex; nuclear matrix; intracellular membrane-bound organelle; cytoplasm; nucleus; nuclear inclusion body

Molecular Function: protein C-terminus binding; identical protein binding; protein binding; DNA binding; protein self-association; poly(U) binding; chromatin binding; poly(rG) binding

Biological Process: RNA processing; transcription, DNA-dependent; adult locomotory behavior; nuclear export; negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; visual learning; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; regulation of excitatory postsynaptic membrane potential; negative regulation of transcription, DNA-dependent; alveolus development

Disease: Spinocerebellar Ataxia 1