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Genetics Home Reference: your guide to understanding genetic conditions
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LAMB3

Reviewed September 2009

What is the official name of the LAMB3 gene?

The official name of this gene is “laminin, beta 3.”

LAMB3 is the gene's official symbol. The LAMB3 gene is also known by other names, listed below.

What is the normal function of the LAMB3 gene?

The LAMB3 gene provides instructions for making one part (subunit) of a protein called laminin 332 (formerly known as laminin 5). This protein is made up of three subunits, called alpha, beta, and gamma. The LAMB3 gene carries instructions for the beta subunit; the alpha and gamma subunits are produced from other genes.

Laminins are a group of proteins that regulate cell growth, cell movement (motility), and the attachment of cells to one another (adhesion). They are also involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Laminin 332 has a particularly important role in the basement membrane that underlies the top layer of skin (the epidermis). This membrane gives strength and resiliency to the skin and creates an additional barrier between the body and its surrounding environment. Laminin 332 is a major component of fibers called anchoring filaments, which connect the two layers of the basement membrane and help hold the skin together.

Studies suggest that laminin 332 also has several other functions. This protein appears to be important for wound healing. Additionally, researchers have proposed roles for laminin 332 in the clear outer covering of the eye (the cornea) and in the development of tooth enamel.

Does the LAMB3 gene share characteristics with other genes?

The LAMB3 gene belongs to a family of genes called LAM (laminins).

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 LAMB3 gene related to health conditions?

junctional epidermolysis bullosa - caused by mutations in the LAMB3 gene

More than 80 mutations in the LAMB3 gene have been identified in people with junctional epidermolysis bullosa (JEB). The more severe form of the disease, known as Herlitz JEB, usually results from mutations that severely disrupt the production of functional laminin 332. Most of these mutations lead to a premature stop signal in the instructions for making the beta subunit of laminin 332, which prevents the assembly of this protein. Without laminin 332, the epidermis is only weakly connected to the underlying layers of skin. Friction or other minor trauma (such as rubbing or scratching) can cause the skin layers to separate, leading to the formation of blisters. Infants with Herlitz JEB develop widespread blistering that causes life-threatening complications.

Other LAMB3 gene mutations cause the milder form of junctional epidermolysis bullosa, non-Herlitz JEB. Some of these mutations alter single protein building blocks (amino acids) in the beta subunit of laminin 332. Others add or delete a small number of amino acids in the beta subunit or change the way the gene's instructions are used to make the subunit. The genetic changes responsible for non-Herlitz JEB usually lead to the production of a laminin 332 protein that retains some of its function. Affected individuals experience blistering, but it may be limited to the hands, feet, knees, and elbows and often improves after the newborn period.

Where is the LAMB3 gene located?

Cytogenetic Location: 1q32

Molecular Location on chromosome 1: base pairs 209,614,869 to 209,652,474

The LAMB3 gene is located on the long (q) arm of chromosome 1 at position 32.

The LAMB3 gene is located on the long (q) arm of chromosome 1 at position 32.

More precisely, the LAMB3 gene is located from base pair 209,614,869 to base pair 209,652,474 on chromosome 1.

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 LAMB3?

You and your healthcare professional may find the following resources about LAMB3 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 LAMB3 gene or gene products?

  • BM600-125KDA
  • FLJ99565
  • kalinin-140kDa
  • kalinin B1 chain
  • LAM5, beta-3 subunit
  • LAMB3_HUMAN
  • laminin 5, beta-3 subunit
  • laminin B1k chain
  • laminin B3
  • laminin, beta-3
  • laminin, beta 3 precursor
  • laminin S B3 chain
  • LAMNB1
  • nicein-125kDa

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 LAMB3?

acids ; basal lamina ; basement membrane ; basement membranes ; cell ; cornea ; enamel ; epidermis ; gene ; hemidesmosome ; keratinocyte ; precursor ; protein ; subunit ; trauma

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

References

  • Aumailley M, Bruckner-Tuderman L, Carter WG, Deutzmann R, Edgar D, Ekblom P, Engel J, Engvall E, Hohenester E, Jones JC, Kleinman HK, Marinkovich MP, Martin GR, Mayer U, Meneguzzi G, Miner JH, Miyazaki K, Patarroyo M, Paulsson M, Quaranta V, Sanes JR, Sasaki T, Sekiguchi K, Sorokin LM, Talts JF, Tryggvason K, Uitto J, Virtanen I, von der Mark K, Wewer UM, Yamada Y, Yurchenco PD. A simplified laminin nomenclature. Matrix Biol. 2005 Aug;24(5):326-32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15979864?dopt=Abstract)
  • Hartwig B, Borm B, Schneider H, Arin MJ, Kirfel G, Herzog V. Laminin-5-deficient human keratinocytes: defective adhesion results in a saltatory and inefficient mode of migration. Exp Cell Res. 2007 May 1;313(8):1575-87. Epub 2007 Feb 9. (http://www.ncbi.nlm.nih.gov/pubmed/17335805?dopt=Abstract)
  • Mühle C, Jiang QJ, Charlesworth A, Bruckner-Tuderman L, Meneguzzi G, Schneider H. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Hum Genet. 2005 Jan;116(1-2):33-42. Epub 2004 Nov 5. (http://www.ncbi.nlm.nih.gov/pubmed/15538630?dopt=Abstract)
  • Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet. 2002 Jan;110(1):41-51. Epub 2001 Nov 13. (http://www.ncbi.nlm.nih.gov/pubmed/11810295?dopt=Abstract)
  • Nakano A, Pfendner E, Hashimoto I, Uitto J. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol. 2000 Sep;115(3):493-8. (http://www.ncbi.nlm.nih.gov/pubmed/11023379?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3914)
  • Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J. Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics. 1995 Jan 1;25(1):192-8. (http://www.ncbi.nlm.nih.gov/pubmed/7774918?dopt=Abstract)
  • Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 1999 Feb;18(1):29-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10367729?dopt=Abstract)
  • Schneider H, Mühle C, Pacho F. Biological function of laminin-5 and pathogenic impact of its deficiency. Eur J Cell Biol. 2007 Dec;86(11-12):701-17. Epub 2006 Sep 26. (http://www.ncbi.nlm.nih.gov/pubmed/17000025?dopt=Abstract)
  • Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006 Aug;43(8):641-52. Epub 2006 Feb 10. (http://www.ncbi.nlm.nih.gov/pubmed/16473856?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: September 2009
Published: July 21, 2014