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OTULIN gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

OTULIN gene

The OTULIN gene provides instructions for making a protein that regulates the body's inflammatory response by removing specific molecular chains from proteins.

Normal Function

The OTULIN gene provides instructions for making a protein that helps regulate inflammation, which is part of the body's early immune response to foreign invaders. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight the invaders and facilitate tissue repair.

Inflammation can be turned on by a cellular process called ubiquitination, in which molecules called ubiquitin are attached to certain proteins. When foreign invaders are recognized, chains of ubiquitin molecules linked end-to-end, called linear ubiquitin chains, are attached to particular proteins. The addition of these chains stimulates signaling pathways that result in inflammation. Once the infection is under control, the body stops the inflammatory response to prevent damage to its own cells and tissues. The OTULIN protein helps control inflammation by removing linear ubiquitin chains.

In addition to inflammation, the OTULIN protein is thought to be involved in regulating development before birth and controlling cell death.

Health Conditions Related to Genetic Changes

Otulipenia

At least three mutations in the OTULIN gene have been found to cause otulipenia, a condition that causes abnormal inflammation in the body, beginning in infancy. Affected babies have recurrent episodes of fever, diarrhea, painful joints, and skin rashes.

  • The gene mutations involved in otulipenia reduce the function of the OTULIN protein.
  • As a result, removal of linear ubiquitin chains is impaired, and signaling pathways that cause inflammation are abnormally active.
  • The excessive inflammation that results causes the signs and symptoms of otulipenia and damages organs in the body; it can be life-threatening if not treated.

Other Names for This Gene

  • AIPDS
  • deubiquitinating enzyme otulin
  • FAM105B
  • family with sequence similarity 105, member B
  • FLJ34884
  • GUM
  • OTU domain-containing deubiquitinase with linear linkage specificity
  • ubiquitin thioesterase Gumby
  • ubiquitin thioesterase otulin

Frequently Asked Questions

Key red flags include recurrent high‑fever episodes starting in the first months of life, unexplained chronic diarrhea, painful or swollen joints, and a persistent erythematous rash that does not respond to typical antibiotics. The combination of systemic inflammation with skin and gastrointestinal involvement is characteristic and should trigger genetic evaluation for OTULIN mutations.
Management focuses on rapid suppression of the hyper‑inflammatory state. First‑line therapy often includes high‑dose corticosteroids to halt acute flares. For long‑term control, biologic agents that block IL‑1 (e.g., anakinra) or TNF‑α (e.g., etanercept) have shown benefit. In refractory cases, hematopoietic stem cell transplantation has been reported, but risks must be weighed carefully.
Diagnosis relies on a two‑step approach: first, inflammatory markers such as CRP, ESR, and serum ferritin are markedly elevated during flares. Second, targeted genetic testing (sequencing of the OTULIN gene) identifies pathogenic variants. In some centers, functional assays measuring linear ubiquitin chain removal in patient‑derived cells can support the diagnosis.
Most reported cases are caused by autosomal‑recessive loss‑of‑function mutations, meaning both parents are typically carriers. When both parents carry a pathogenic OTULIN variant, each pregnancy carries a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Carrier testing and prenatal or pre‑implantation genetic diagnosis are options for families planning additional children.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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