ATXN3 : ataxin 3

Description

The ATXN3 (ataxin 3) is a protein-coding gene located on chromosome 14.

The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin attaches (binds) to unneeded proteins and tags them to be broken down (degraded) within cells. Ataxin-3 removes (cleaves) the ubiquitin from these unwanted proteins just before they are degraded so that the ubiquitin can be used again. Due to its role in cleaving ubiquitin from proteins, ataxin-3 is known as a deubiquitinating enzyme. Researchers believe that ataxin-3 also may be involved in regulating the first stage of protein production (transcription).

Ataxin-3 is a deubiquitinating enzyme involved in protein homeostasis, transcription, cytoskeleton regulation, myogenesis, and degradation of misfolded chaperone substrates. It binds long polyubiquitin chains and trims them, but has weak or no activity against chains of 4 or less ubiquitins. It interacts with STUB1/CHIP and restricts ubiquitin chain length on STUB1/CHIP substrates. Ataxin-3 also interacts with key regulators of transcription and acts as a histone-binding protein. It negatively regulates mTORC1 signaling in response to amino acid deprivation by deubiquitinating RHEB. It regulates autophagy by deubiquitinating BECN1.

ATXN3 is also known as AT3, ATX3, JOS, MJD, MJD1, SCA3.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing