Entity Details

Primary name OTUD6B
Entity type gene
Source Source Link

Details

PrimaryID51633
RefseqGene
SymbolOTUD6B
NameOTU deubiquitinase 6B
Chromosome8
Location8q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsOTU6B_HUMAN

GO terms

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GOName
GO:0004843 thiol-dependent deubiquitinase
GO:0008283 cell population proliferation
GO:0016579 protein deubiquitination
GO:0017148 negative regulation of translation
GO:0043248 proteasome assembly
GO:0045727 positive regulation of translation

Diseases

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Disease IDSourceNameDescription
617452 OMIMIntellectual 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. The disease is caused by variants affecting the gene represented in this entry.