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Deubiquitinating enzymes (DUBs\\\\; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. Additionally we are shipping OTU Domain Containing 6B Antibodies (28) and OTU Domain Containing 6B Proteins (7) and many more products for this protein.
OTUD6B encodes a deubiquitinating enzyme; study reports biallelic pathogenic variants in OTUD6B in 12 individuals from 6 families with intellectual disability syndrome associated with seizures & dysmorphic features; other features include developmental delay, microcephaly, absent speech, hypotonia, growth retardation, feeding difficulties, structural brain abnormalities, malformations of heart & musculoskeleton.
Deubiquitinating enzymes (DUBs\; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA5 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.
OTU domain containing 6B
, OTU domain-containing protein 6B
, ortholog of human CGI-77