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Genetics Home Reference: your guide to understanding genetic conditions
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LAMP2

Reviewed April 2011

What is the official name of the LAMP2 gene?

The official name of this gene is “lysosomal-associated membrane protein 2.”

LAMP2 is the gene's official symbol. The LAMP2 gene is also known by other names, listed below.

What is the normal function of the LAMP2 gene?

The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 protein may help transport cellular materials or digestive enzymes into the lysosome. The transport of cellular materials into lysosomes requires the formation of cellular structures called autophagic vacuoles (or autophagosomes). Cellular material that will be degraded in a lysosome is first enclosed in an autophagic vacuole inside the cell. The autophagic vacuole attaches (fuses) to a lysosome to transfer the cellular material into the lysosome where it can be broken down. The LAMP-2 protein may be involved in the fusion between autophagic vacuoles and lysosomes.

Slightly different versions (isoforms) of the LAMP-2 protein are produced: LAMP-2A, LAMP-2B, and LAMP-2C. These isoforms are found in different tissues throughout the body. LAMP-2B is the main isoform found in the heart and the muscles used for movement (skeletal muscles).

Does the LAMP2 gene share characteristics with other genes?

The LAMP2 gene belongs to a family of genes called CD (CD molecules).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the LAMP2 gene related to health conditions?

Danon disease - caused by mutations in the LAMP2 gene

There are many mutations in the LAMP2 gene that can cause Danon disease. Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of skeletal muscles (myopathy), and intellectual disability. This condition affects men more severely than women.

The LAMP2 gene mutations that cause Danon disease lead to the production of very little or no LAMP-2 protein. Most mutations affect all three isoforms of the LAMP-2 protein. However, a mutation that affects only the LAMP-2B isoform also causes Danon disease, suggesting that the condition is caused by defects in the LAMP-2B protein.

Some studies have shown that in cells without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs more slowly, which may lead to the accumulation of autophagic vacuoles. People with Danon disease have an abnormally large number of autophagic vacuoles in their heart and skeletal muscle cells. It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease.

Some people with LAMP2 gene mutations develop hypertrophic cardiomyopathy without the other characteristic features of Danon disease. Hypertrophic cardiomyopathy is a thickening of the heart muscle that may make it harder for the heart to pump blood. In people with LAMP2 gene mutations, the lower left chamber of the heart, called the left ventricle, is usually the affected region. People with hypertrophic cardiomyopathy caused by LAMP2 mutations often have a particular abnormality of the electrical signals that control the heartbeat called cardiac preexcitation. It is unclear whether this is a separate condition or a milder form of Danon disease. Furthermore, it is unknown why some people with LAMP2 mutations develop hypertrophic cardiomyopathy but not the other features of Danon disease.

Where is the LAMP2 gene located?

Cytogenetic Location: Xq24

Molecular Location on the X chromosome: base pairs 120,426,147 to 120,469,348

The LAMP2 gene is located on the long (q) arm of the X chromosome at position 24.

The LAMP2 gene is located on the long (q) arm of the X chromosome at position 24.

More precisely, the LAMP2 gene is located from base pair 120,426,147 to base pair 120,469,348 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LAMP2?

You and your healthcare professional may find the following resources about LAMP2 helpful.

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

What other names do people use for the LAMP2 gene or gene products?

  • CD107 antigen-like family member B
  • CD107b
  • LAMP-2
  • LAMP2_HUMAN
  • LAMPB
  • LGP110
  • lysosome-associated membrane glycoprotein 2
  • lysosome-associated membrane protein 2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LAMP2?

breakdown ; cardiac ; cardiomyopathy ; cell ; digestive ; disability ; gene ; hypertrophic ; isoforms ; lysosome ; muscle cells ; mutation ; protein ; skeletal muscle ; vacuole ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005 Jan 27;352(4):362-72. (http://www.ncbi.nlm.nih.gov/pubmed/15673802?dopt=Abstract)
  • Eskelinen EL, Illert AL, Tanaka Y, Schwarzmann G, Blanz J, Von Figura K, Saftig P. Role of LAMP-2 in lysosome biogenesis and autophagy. Mol Biol Cell. 2002 Sep;13(9):3355-68. (http://www.ncbi.nlm.nih.gov/pubmed/12221139?dopt=Abstract)
  • Eskelinen EL. Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. Mol Aspects Med. 2006 Oct-Dec;27(5-6):495-502. Epub 2006 Sep 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16973206?dopt=Abstract)
  • Konecki DS, Foetisch K, Zimmer KP, Schlotter M, Lichter-Konecki U. An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner. Biochem Biophys Res Commun. 1995 Oct 13;215(2):757-67. (http://www.ncbi.nlm.nih.gov/pubmed/7488019?dopt=Abstract)
  • OMIM: LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2 (http://omim.org/entry/309060)
  • Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I. Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Neuromuscul Disord. 2008 Jul;18(7):521-9. doi: 10.1016/j.nmd.2008.04.010. Epub 2008 May 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18502640?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3920)
  • Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 2000 Aug 24;406(6798):906-10. (http://www.ncbi.nlm.nih.gov/pubmed/10972294?dopt=Abstract)

 

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.

 
Reviewed: April 2011
Published: September 15, 2014