OTUD6B

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene.{{cite web | title = Entrez Gene: OTU domain containing 6B| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=51633| accessdate = 2011-08-30}}

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). OTUD6B function may be connected to growth and proliferation.{{cite journal | vauthors = Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C, Bocchetta M | title = Deubiquitinase OTUD6B Isoforms are Important Regulators of Growth and Proliferation | journal = Molecular Cancer Research | date = November 2016 | pmid = 27864334 | doi = 10.1158/1541-7786.MCR-16-0281-T | volume=15 | issue = 2 | pmc=5290186 | pages=117–127}}{{cite journal | vauthors = Xu Z, Zheng Y, Zhu Y, Kong X, Hu L | title = Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation | journal = PLOS ONE | volume = 6 | issue = 1 | pages = e14514 | date = January 2011 | pmid = 21267069 | pmc = 3022568 | doi = 10.1371/journal.pone.0014514 | bibcode = 2011PLoSO...614514X | doi-access = free }} 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.{{Cite journal|last1=Santiago-Sim|first1=Teresa|last2=Burrage|first2=Lindsay C.|last3=Ebstein|first3=Frédéric|last4=Tokita|first4=Mari J.|last5=Miller|first5=Marcus|last6=Bi|first6=Weimin|last7=Braxton|first7=Alicia A.|last8=Rosenfeld|first8=Jill A.|last9=Shahrour|first9=Maher|date=2017-04-06|title=Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features|journal=American Journal of Human Genetics|volume=100|issue=4|pages=676–688|doi=10.1016/j.ajhg.2017.03.001|issn=1537-6605|pmc=5384096|pmid=28343629}} In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features.