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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Machado-Joseph disease is an autosomal dominant neurologic disorder, and is now known to be the same as previously described spinocerebellar ataxia-3. MJD protein (Ataxin-3) contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. This protein interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription, and also acts as a histone-binding protein that regulates transcription. MJD is a deubiquitinating enzyme.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Ataxin-3; ataxin3; Machado-Joseph disease protein 1; spin; Spinocerebellar ataxia type 3 protein
基因别名: ATX3; ATXN3; MJD; MJD1; SCA3
Entrez Gene ID: (Human) 4287