DISEASES

Disease-gene associations mined from literature

Literature associating USP6 and bone giant cell tumor

USP6 [ENSP00000460380]

Ubiquitin-specific-processing protease 6; Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6- dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation; Ubiquitin specific peptidases

Synonyms:  USP6,  USP6p,  hUSP6,  P35125,  Q15635 ...

Linkouts:  STRING  Pharos  UniProt