LPIN2 gene

lipin 2

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.

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.

Cytogenetic Location: 18p11.31, which is the short (p) arm of chromosome 18 at position 11.31

Molecular Location: base pairs 2,916,994 to 3,013,315 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18p11.31, which is the short (p) arm of chromosome 18 at position 11.31
  • KIAA0249
  • LPIN2_HUMAN