Ubiquitin thioesterase otulin
The OTULIN gene encodes a peptidase that is involved in ubiquitin-mediated protein degradation. Mutations cause autosomal recessive AIPDS syndrome.
Genetests:
Related Diseases:
References:
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Rivkin E et al. (2013) The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.
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Keusekotten K et al. (2013) OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin.
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Damgaard RB et al. (2016) The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
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4. |
Zhou Q et al. (2016) Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
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5. |
Heger K et al. (2018) OTULIN limits cell death and inflammation by deubiquitinating LUBAC.
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Update: Aug. 14, 2020