ataxin 3; ATXN3; AT3; ATX3; JOS; MJD; MJD1; SCA3

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Antigen Affinity Purified

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-ATXN3 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

20,633 Da[Similar Products]

ataxin 3

ataxin-3; josephin; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant ref; olivopontocerebellar ataxia 3; Machado-Joseph disease protein 1; spinocerebellar ataxia type 3 protein; Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)

Ataxin-3

ATX3; MJD; MJD1; SCA3??[Similar Products]

ATX3_HUMAN

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 13-36 to 68-79 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. [provided by RefSeq, Sep 2009]

ataxin-3: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone- binding protein that regulates transcription. Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3); also known as Machado-Joseph disease (MJD). 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. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.4.19.12; Transcription regulation; Ubiquitin-specific protease; DNA repair, damage; Protease

Chromosomal Location of Human Ortholog: 14q21

Cellular Component: nucleoplasm; nuclear matrix; mitochondrial matrix; mitochondrial membrane; cytoplasm; cytosol; nucleus; nuclear inclusion body

Molecular Function: identical protein binding; protein binding; omega peptidase activity; ubiquitin protein ligase binding; ubiquitin-specific protease activity; ATPase binding

Biological Process: ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; synaptic transmission; nervous system development; regulation of transcription, DNA-dependent; transcription, DNA-dependent; nucleotide-excision repair; misfolded or incompletely synthesized protein catabolic process; intermediate filament cytoskeleton organization and biogenesis; microtubule cytoskeleton organization and biogenesis; actin cytoskeleton organization and biogenesis

Disease: Machado-joseph Disease

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