OTUD6B

Description

The OTUD6B (OTU deubiquitinase 6B) is a protein-coding gene located on chromosome 8.

OTUD6B is a protein encoded by the OTUD6B gene in humans. It is a deubiquitinating enzyme that removes ubiquitin tags from proteins, counteracting the effects of ubiquitin ligases. OTUD6B belongs to a DUB subfamily characterized by an ovarian tumor domain (OTU). Its function may be related to growth and proliferation, as knockout mice lacking OTUD6B are smaller and have reduced viability. In humans, OTUD6B mutations have been linked to an intellectual disability syndrome with dysmorphic features.

OTUD6B is a deubiquitinating enzyme that may regulate protein synthesis downstream of mTORC1. It might associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation. OTUD6B could also repress DNA synthesis and regulate cell growth and proliferation by modifying different cellular targets. It may play a role in proteasome assembly and function.

OTUD6B is also known as CGI-77, DUBA-5, DUBA5, IDDFSDA.

Associated Diseases

• Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies