Disease-gene associations mined from literature

Literature associating USP34 and arthrogryposis, renal dysfunction, and cholestasis 1

USP34 [ENSP00000381577]

Ubiquitin-specific-processing protease 34; Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins; Armadillo-like helical domain containing

Synonyms:  USP34,  USP34p,  hUSP34,  H7C150,  Q70CQ2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM