Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Ubiquitin thioesterase otulin

The OTULIN gene encodes a peptidase that is involved in ubiquitin-mediated protein degradation. Mutations cause autosomal recessive AIPDS syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OTULIN

References:

1.

Rivkin E et al. (2013) The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.

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2.

Keusekotten K et al. (2013) OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin.

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3.

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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6.
Update: Aug. 14, 2020
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