OTUD6B
Function
Isoform 1
Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation (PubMed:27864334). May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation (PubMed:27864334). May also play a role in proteasome assembly and function (PubMed:28343629).
Isoform 2
Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability.
Involvement in disease
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
IDDFSDA
An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features.
None
The disease is caused by variants affecting the gene represented in this entry.
Alternative names
DUBA5, CGI-77, OTUD6B, Deubiquitinase OTUD6B, DUBA-5, OTU domain-containing protein 6B