DISEASES

Disease-gene associations mined from literature

Literature associating OTUD6B and Kaufman oculocerebrofacial syndrome

OTUD6B [ENSP00000285420]

Deubiquitinase OTUD6B; [Isoform 1]: Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 . May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation . May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation . May also play a role in proteasome assembly and function .

Synonyms:  OTUD6B,  OTUD6Bp,  hOTUD6B,  A0A087X0W9,  A0A0C4DH76 ...

Linkouts:  STRING  Pharos  UniProt  OMIM