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LPIN2 gene
URL of this page: https://medlineplus.gov/genetics/gene/lpin2/

LPIN2 gene

lipin 2

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. This response helps the body to fight the injury or infection.

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. Bones are constantly being remodeled, and this process is carefully controlled to ensure that bones stay healthy.

Health Conditions Related to Genetic Changes

Majeed syndrome

A few variants (also called mutations) in the LPIN2 gene have been identified in people with Majeed syndrome, a rare condition that is characterized by recurrent episodes of fever and inflammation. These gene variants can alter the structure and function of lipin-2. Researchers are still learning exactly how these gene variants cause the specific signs and symptoms of Majeed syndrome.

It is thought that LPIN2 gene variants cause the overactivation of the NLRP3 inflammasome, leading to chronic inflammation. Variants in the LPIN2 gene interfere with the maintenance of bone tissue by increasing the production of osteoclasts.  Osteoclasts are specialized cells that break down bone tissue and are important for bone remodeling. Variants in the LPIN2 gene also result in a large number of molecules that promote inflammation being released into bones. These changes cause the bone inflammation, bone pain, and other problems seen in people with Majeed syndrome.

More About This Health Condition

Other Names for This Gene

  • CRMO1
  • LIPIN 2
  • MJDS
  • Phosphatidate phosphatase LPIN2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ. A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum. 2007 Mar;56(3):960-4. doi: 10.1002/art.22431. Citation on PubMed
  • Bhuyan F, de Jesus AA, Mitchell J, Leikina E, VanTries R, Herzog R, Onel KB, Oler A, Montealegre Sanchez GA, Johnson KA, Bichell L, Marrero B, De Castro LF, Huang Y, Calvo KR, Collins MT, Ganesan S, Chernomordik LV, Ferguson PJ, Goldbach-Mansky R. Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis. Arthritis Rheumatol. 2021 Jun;73(6):1021-1032. doi: 10.1002/art.41624. Epub 2021 May 9. Citation on PubMed
  • Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005 Jul;42(7):551-7. doi: 10.1136/jmg.2005.030759. Citation on PubMed or Free article on PubMed Central
  • Ferguson PJ, El-Shanti H. Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features. Biomolecules. 2021 Feb 28;11(3):367. doi: 10.3390/biom11030367. Citation on PubMed
  • Hetrick R, Oliver M. Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity. Front Pediatr. 2023 Jun 5;11:1169659. doi: 10.3389/fped.2023.1169659. eCollection 2023. Citation on PubMed
  • Lorden G, Sanjuan-Garcia I, de Pablo N, Meana C, Alvarez-Miguel I, Perez-Garcia MT, Pelegrin P, Balsinde J, Balboa MA. Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. J Exp Med. 2017 Feb;214(2):511-528. doi: 10.1084/jem.20161452. Epub 2016 Dec 28. Citation on PubMed
  • Narayanan DL, Gogineni KS, Badiger VA. LPIN2-Related Majeed Syndrome. 2023 Mar 2. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK589480/ Citation on PubMed
  • Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020 Nov;146(5):925-937. doi: 10.1016/j.jaci.2020.08.017. Citation on PubMed
  • Reue K, Zhang P. The lipin protein family: dual roles in lipid biosynthesis and gene expression. FEBS Lett. 2008 Jan 9;582(1):90-6. doi: 10.1016/j.febslet.2007.11.014. Epub 2007 Nov 20. Citation on PubMed or Free article on PubMed Central
  • Reue K. The lipin family: mutations and metabolism. Curr Opin Lipidol. 2009 Jun;20(3):165-70. doi: 10.1097/MOL.0b013e32832adee5. Citation on PubMed or Free article on PubMed Central

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.