Rabbit anti-Human ATXN3 Polyclonal Antibody

Uniprot Id

P54252

Target Species

Human

Target Name

ATXN3

Target Full Name

Ataxin-3

Target Function

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. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription. Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1.

Target Involvement

Spinocerebellar ataxia 3 (SCA3)

Target Subcellular Location

Nucleus matrix. Nucleus. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix.

Target Tissue Specificity

Ubiquitous.

Target Synonyms

AT3; Ataxin 3; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant ref; Ataxin-3; ATX3; ATX3_HUMAN; ATXN3; EC 3.4.22.; JOS; Josephin; Machado Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3); Machado Joseph disease; Machado Joseph disease protein 1; Machado-Joseph disease protein 1; Machado-Joseph disease protein 1 homolog; MJD; MJD gene; MJD1; Olivopontocerebellar ataxia 3; OTTHUMP00000221583; OTTHUMP00000221585; OTTHUMP00000221586; OTTHUMP00000221587; OTTHUMP00000231995; OTTHUMP00000231997; Rsca3; SCA3; SCA3 gene; Spinocerebellar ataxia type 3 protein

Target Background

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.