OTUD6B


OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene.
OTUD6B is a functional deubiquitinating enzyme, a class of protease that specifically cleaves ubiquitin linkages, negating the action of ubiquitin ligases. OTUD6B, also known as DUBA5, belongs to a DUB subfamily characterized by an ovarian tumor domain. OTUD6B function may be connected to growth and proliferation. This hypothesis is supported by a recent study indicating that OTUD6B knock out mice, obtained through exon 4 deletion, are subviable and smaller in size. In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features.