RecName: Full=Deubiquitinase OTUD6B; AltName: Full=DUBA-5; AltName: Fu - Protein

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Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. [Eur J Med Genet. 2022]
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S, Soydemir D, Öner TÖ, Karaca E, Özden B, Kurul SH, Bayram E, University of Washington Center for Mendelian Genomics, Coe BP, Nickerson DA, et al. Eur J Med Genet. 2022 Jun; 65(6):104497. Epub 2022 Apr 14.
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype. [J Hum Genet. 2022]
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Abdel-Salam GMH, Abdel-Hamid MS, Sayed ISM, Zechner U, Bolz HJ. J Hum Genet. 2022 Jan; 67(1):55-64. Epub 2021 Aug 5.
Otud6b induces pulmonary arterial hypertension by mediating the Calpain-1/HIF-1α signaling pathway. [Cell Mol Life Sci. 2024]
Otud6b induces pulmonary arterial hypertension by mediating the Calpain-1/HIF-1α signaling pathway.
Liu Y, Tang B, Wang H, Lu M. Cell Mol Life Sci. 2024 Jun 15; 81(1):258. Epub 2024 Jun 15.

RefSeq protein isoforms
See 7 reference sequence protein isoforms for the OTUD6B gene.

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Q8N6M0 [Domain Mapping of Disease Mut...]
Q8N6M0
Domain Mapping of Disease Mutations
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reagents [ExactAntigen/Labome]
reagents
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Protein