OTU domain containing 6B is a protein that in humans is encoded by the OTUD6Bgene.[1]
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 (OTU).[1] OTUD6B function may be connected to growth and proliferation.[2][3] 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.[4] In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features.[4]
Previous studies on model organisms (see below) cannot be verified by this editor.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty five tests were carried out on homozygousmutant adult mice, however no significant abnormalities were observed.[7]
↑ 7.07.17.2Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
