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

LPIN2 gene

lipin 2
From Genetics Home Reference. Learn more

Normal Function

The LPIN2 gene provides instructions for producing a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). It may also be involved in controlling inflammation and in cell division.

Health Conditions Related to Genetic Changes

Majeed syndrome

At least three mutations in the LPIN2 gene have been identified in people with Majeed syndrome. These mutations alter the structure and function of lipin-2, leading to chronic, abnormal inflammation in some of the body's tissues. It is unclear how LPIN2 gene mutations lead to the specific features of Majeed syndrome, including bone disease, a shortage of red blood cells (anemia), and inflammatory skin disorders.

More About This Health Condition

Other Names for This Gene

  • KIAA0249
  • LPIN2_HUMAN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. 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. Citation on PubMed or Free article on PubMed Central
  • 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. Epub 2007 Nov 20. Review. 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. Review. Citation on PubMed or Free article on PubMed Central
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