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LPIN2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LPIN2 gene

The LPIN2 gene provides instructions for the lipin-2 protein, which is involved in lipid metabolism, inflammation regulation, and bone remodeling.

Normal Function

The LPIN2 gene provides instructions for producing a protein called lipin-2. Researchers believe that this protein plays an important role in the processing of fats (lipid metabolism). It is also thought to help regulate inflammation, a normal immune system response to injury or infection.

Lipin-2 helps to regulate the activity of a complex called the NLRP3 inflammasome. Inflammasomes are groups of proteins that form in response to injury or infection. Once formed, the NLRP3 inflammasome sets off a series of events that trigger an inflammatory response. Lipin-2 is also thought to be involved in bone remodeling, a normal process in which old bone is removed and replaced by new bone.

Health Conditions Related to Genetic Changes

Majeed syndrome

A few variants in the LPIN2 gene have been identified in people with Majeed syndrome, a rare condition characterized by recurrent episodes of fever and inflammation. It is thought that LPIN2 gene variants cause the overactivation of the NLRP3 inflammasome, leading to chronic inflammation. Variants in the LPIN2 gene also interfere with the maintenance of bone tissue by increasing the production of osteoclasts—specialized cells that break down bone tissue. These changes cause the bone inflammation, bone pain, and other problems seen in people with Majeed syndrome.

Other Names for This Gene

  • CRMO1
  • LIPIN 2
  • MJDS
  • Phosphatidate phosphatase LPIN2

Genomic Location

The LPIN2 gene is found on chromosome 18.

Frequently Asked Questions

Early signs include unexplained fevers that recur every few weeks, persistent bone pain especially in the long bones or pelvis, swelling or redness at bone sites, and sometimes skin rashes. Laboratory tests often show elevated inflammatory markers such as ESR, CRP, and high white‑blood‑cell counts. Prompt recognition of these symptoms can lead to earlier testing and treatment.
The mainstay of therapy is anti‑inflammatory medication. Interleukin‑1 blockers (anakinra or canakinumab) are commonly used because the disease involves overactivation of the NLRP3 inflammasome. Corticosteroids may be used for acute flare‑ups, but long‑term use is limited due to side effects. Bisphosphonates or denosumab can help reduce bone resorption and pain. Regular monitoring by a rheumatologist or a pediatric immunologist is recommended.
Diagnosis typically starts with a clinical evaluation of recurrent fevers, bone pain, and signs of chronic inflammation. If Majeed syndrome is suspected, a targeted genetic test such as a single‑gene LPIN2 sequencing panel or a broader autoinflammatory gene panel is performed. Whole‑exome sequencing may also be used if the initial tests are inconclusive. The test looks for pathogenic variants in both copies of the LPIN2 gene, confirming a biallelic mutation that is required for disease expression.
While no diet can cure Majeed syndrome, anti‑inflammatory eating patterns may help. A Mediterranean‑style diet rich in omega‑3 fatty acids (fish, flaxseed), plenty of fruits and vegetables, and reduced processed foods can lower systemic inflammation. Adequate calcium and vitamin D intake, along with weight‑bearing exercise as tolerated, supports bone density. Patients should work with a dietitian to tailor a plan that meets their individual needs and avoids foods that trigger flare‑ups.===
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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