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ATXN3
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity). Interacts with DNA repair proteins RAD23A and RAD23B (PubMed:16020535, PubMed:30455355). Interacts with BECN1 (via its poly-Gln domain) (PubMed:28445460). Interacts with PRKN, UBR2, VCP and tubulin. Short isoform 1 interacts with CASP7 (PubMed:30455355).
Molecular function
Hydrolase, Protease, Thiol protease
More Types Infomation
-
- Species Reactivity: Human
- Type: Mouse IgG1
- Application: ELISA
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB
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For Research Use Only. Not For Clinical Use.