LPIN2

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LPIN2

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Name
Normal function
Genetic changes
Gene location
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Reviewed August 2009

What is the official name of the LPIN2 gene?

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.

Read more about gene names and symbols on the About page.

What is the normal function of the LPIN2 gene?

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.

How are changes in the LPIN2 gene related to health conditions?

Majeed syndrome - caused by mutations in the LPIN2 gene: 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.

Where is the LPIN2 gene located?

Cytogenetic Location: 18p11.31

Molecular Location on chromosome 18: base pairs 2,916,991 to 3,011,944

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 2,916,991 to base pair 3,011,944 on chromosome 18.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about LPIN2?

You and your healthcare professional may find the following resources about LPIN2 helpful.

Gene Reviews - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

What other names do people use for the LPIN2 gene or gene products?

KIAA0249
LPIN2_HUMAN

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding LPIN2?

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.

References (5 links)

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? in the Handbook.