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The official name of this gene is “lipin 2.”
LPIN2 is the gene's official symbol. The LPIN2 gene is also known by other names, listed below.
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
Molecular Location on chromosome 18: base pairs 2,916,993 to 3,013,314
The LPIN2 gene is located on the short (p) arm of chromosome 18 at position 11.31.
More precisely, the LPIN2 gene is located from base pair 2,916,993 to base pair 3,013,314 on chromosome 18.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about LPIN2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
anemia ; cell ; cell division ; chronic ; gene ; immune response ; inflammation ; lipid ; metabolism ; mitosis ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.