DISEASES

Disease-gene associations mined from literature

Literature associating ATXN3 and hereditary lymphedema II

ATXN3 [ENSP00000478320]

Spinocerebellar ataxia type 3 protein; 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 (By similarity). 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; Ataxins

Synonyms:  ATXN3,  ATXN3p,  hATXN3,  ATXN3-001,  ATXN3-002 ...

Linkouts:  STRING  Pharos  UniProt