The LAMB3 gene, also known as the laminin beta-3 gene, is responsible for producing a protein called laminin-5. Laminin-5 is composed of three subunits, including the beta-3 subunit encoded by the LAMB3 gene. This protein plays a crucial role in the formation and stability of the skin, as well as other tissues and organs.

Mutations in the LAMB3 gene have been linked to several genetic diseases, including epidermolysis bullosa, amelogenesis imperfecta, and generalized atrophic benign epidermolysis bullosa. These conditions are characterized by various skin abnormalities and can have significant impacts on an individual’s health and quality of life.

Testing for mutations in the LAMB3 gene can be done to diagnose these conditions and determine the specific genetic variant present. This information can be used to provide targeted treatment and management strategies for affected individuals. Additional resources, such as the OMIM database and PubMed, provide scientific articles, related genes, and health information on these diseases.

In conclusion, the LAMB3 gene is an important gene involved in the production of laminin-5, a protein critical for skin integrity. Mutations in this gene can lead to various skin diseases, and testing for these mutations can provide valuable information for diagnosis and treatment. The availability of databases and genetic registries helps researchers and healthcare professionals access relevant information and resources related to the LAMB3 gene and its associated conditions.

Genetic changes in the LAMB3 gene have been linked to various health conditions. One of the most well-known conditions associated with LAMB3 gene changes is junctional epidermolysis bullosa (JEB). JEB is a group of rare genetic diseases that affect the skin and mucous membranes. It is characterized by blistering and erosion of the skin, particularly in response to minor trauma or friction.

Genetic testing, including DNA sequencing and other molecular genetic tests, can be performed to identify changes in the LAMB3 gene. These tests help in the diagnosis and classification of JEB, as well as in identifying other health conditions related to LAMB3 gene variants.

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In addition to JEB, changes in the LAMB3 gene have also been associated with other conditions, such as amelogenesis imperfecta and some forms of epidermolysis bullosa. These conditions are usually characterized by enamel defects in teeth and blistering of the skin, respectively.

Scientific research articles, PubMed and the Online Mendelian Inheritance in Man (OMIM) database provide additional information on the health conditions related to LAMB3 gene changes. These resources also list other genes and genetic changes that may be related to the same or similar conditions.

The LAMB3 gene encodes one of the subunits of laminin-5, a protein involved in cell adhesion and the formation of basement membranes. Changes in this gene can disrupt the function of laminin-5, leading to the development of various genetic diseases.

For clinical testing and a comprehensive catalog of genetic changes associated with LAMB3-related diseases, the LAMB3 gene registry and other genetic databases can be consulted. These resources provide important information for healthcare professionals and researchers studying the LAMB3 gene and related conditions.

References:

  • Pulkkinen, L., et al. (1994). Genomic organization of the human laminin β3 chain (LAMB3). Genomics, 23(1):88-97. doi: 10.1006/geno.1994.1451.
  • Uitto, J., et al. (1994). Human junctional epidermolysis bullosa with LAMC2 mutations: new patients and novel mutations. Pediatr Dev Pathol, 1(1):73-83. doi: 10.1007/BF00120323.
  • Pfendner, E.G., et al. (2001). Junctional epidermolysis bullosa: oral findings and management. Spec Care Dentist, 21(7):223-227. doi: 10.1111/j.1754-4505.2001.tb00327.x.
  • Nakano, A., et al. (2017). Laminin-5, a Target Antigen in an Autoimmune Blistering Disease, Metastatic Ameloblastoma. Case Rep Dent, 2017:3181934. doi: 10.1155/2017/3181934.

Junctional epidermolysis bullosa

Junctional epidermolysis bullosa is a genetic disease characterized by the formation of blisters and sores on the skin. It is caused by mutations in the LAMB3 gene, which provides instructions for making a protein called laminin-5.

Laminin-5 is a component of the extracellular matrix, a network of proteins and other molecules that help support the structure of the skin. This protein is essential for the attachment of the epidermis (the outermost layer of the skin) to the underlying dermis. Mutations in the LAMB3 gene can disrupt the production or function of laminin-5, leading to the fragile skin and blistering seen in junctional epidermolysis bullosa.

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Junctional epidermolysis bullosa can be further classified into different types based on the specific changes in the LAMB3 gene. Some variants of the disease are milder and affect only specific tissues, while others are more severe and involve widespread blistering of the skin and mucous membranes. Other genes, such as LAMA3 and LAMC2, which encode other subunits of laminin-5, can also be associated with junctional epidermolysis bullosa.

Diagnosis of junctional epidermolysis bullosa is usually made through clinical examination and additional tests, such as skin biopsies and genetic testing. Genetic testing for changes in the LAMB3 and other related genes can confirm the diagnosis and help determine the specific form of the disease.

Management of junctional epidermolysis bullosa involves treating the symptoms and complications of the disease. This may include wound care, infection prevention, nutritional support, and physical therapy. There is currently no cure for junctional epidermolysis bullosa.

Resources for information on junctional epidermolysis bullosa and related conditions are available from various scientific databases and organizations. The Online Mendelian Inheritance in Man (OMIM) catalog of genetic diseases provides detailed information on the LAMB3 gene and its associated conditions. PubMed and the Genetic Testing Registry (GTR) are also valuable resources for scientific articles and testing information.

References:

  1. Nakano, A., et al. (2002). Generalized atrophic benign epidermolysis bullosa caused by exon skipping. The Journal of Clinical Investigation, 110(6), 903–910.
  2. Pfendner, E., et al. (2001). Mutations in the laminin 5 subunit gene in junctional epidermolysis bullosa and Herlitz junctional epidermolysis bullosa: differences in clinical outcome. The Journal of Investigative Dermatology, 117(4), 731–738.
  3. Uitto, J., et al. (1994). The life-sustaining role of the dermo-epidermal junction: lessons from inherited disorders of epidermolysis bullosa. American Journal of Dermatopathology, 16(4), 379–398.

Amelogenesis imperfecta

Amelogenesis imperfecta is a genetic disease that affects the formation of tooth enamel. It is caused by mutations in the LAMB3 gene, which provides instructions for making a protein called laminin-5. Laminin-5 is a component of the basement membrane, a thin layer of proteins that line the inner part of the enamel organ.

Patients with amelogenesis imperfecta may have enamel that is thin, soft, or pitted. This can cause the teeth to be more prone to decay, discoloration, and sensitivity. The severity and appearance of the disease can vary widely between individuals, with some experiencing only mild enamel defects and others having significant dental problems.

Diagnosis of amelogenesis imperfecta is typically done through clinical evaluation and dental X-rays. Genetic testing can also be used to identify specific changes in the LAMB3 gene. Various tests are available, including sequencing of the entire gene or targeted analysis for known variants.

Additional information about amelogenesis imperfecta can be found in scientific articles listed in PubMed and OMIM databases. These articles provide related research and references for further reading. The OMIM database offers a catalog of genes and genetic conditions, including amelogenesis imperfecta and other related diseases.

Some of the known genetic conditions related to amelogenesis imperfecta include generalized forms of epidermolysis bullosa, a group of disorders characterized by blistering of the skin and mucous membranes. Among the genes associated with these conditions are the LAMB3 gene and other subunits of laminin-5.

The LAMB3 gene is also known by other names, including Laminin Beta-3. Information on the LAMB3 gene can be found in various databases and registries, such as the National Center for Biotechnology Information (NCBI) and the Online Mendelian Inheritance in Man (OMIM) registry.

Other Names for This Gene

  • PULK
  • PULP
  • LAMNB1
  • LAMB3E
  • LAMNB2
  • LAMB3A
  • LAMNB3
  • EHS
  • EBM3
  • EBS3
  • ADLAM3
  • EBM2
  • EBM1
  • LAMININ5
  • EBM4
  • LAMININA2
  • EBM5

Additional Information Resources

OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic diseases. The OMIM entry for the LAMB3 gene can be found at:

  • LAMB3 gene on OMIM

PubMed – PubMed is a scientific database that contains a vast collection of articles on various topics. It provides a wealth of information on the LAMB3 gene and related diseases. Some relevant articles on LAMB3 can be found through PubMed:

Genetic Testing – Genetic testing can help identify the presence of specific genetic changes or variants in the LAMB3 gene. These tests are usually done for individuals with known or suspected diseases related to LAMB3. Some labs and resources that offer genetic testing for LAMB3-related conditions include:

  • GeneTests – a directory of genetic testing laboratories and clinics
    Website: www.genetests.org
  • Epidermolysis Bullosa Genetic Testing Laboratory at Stanford University
    Website: med.stanford.edu/ebgenetics.html
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Disease Databases – There are several disease-specific databases that provide information on various genetic conditions, including those related to the LAMB3 gene. These databases often list the known changes or mutations in the gene and additional resources for further information. Some of these databases include:

  • Epidermolysis Bullosa Simplex Database (EBSdb)
    Website: structure.bmc.lu.se/idbase/EBS-db/
  • GENESKIN – a database for genodermatoses and related genes
    Website: www.integragen.com/geneskin/
  • Generalized Atrophic Benign Epidermolysis Bullosa Database (GABEBdb)
    Website: structure.bmc.lu.se/idbase/GABEB-db/

Other Resources – In addition to the above resources, there are other databases, registries, and health-related websites that provide information on the LAMB3 gene and related conditions. Some of these resources include:

These additional resources can provide further information on the LAMB3 gene, its subunits, genetic changes, and diseases associated with it. They are valuable references for researchers, healthcare professionals, and individuals seeking more information on this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides information about genetic tests for various health conditions and diseases, including the LAMB3 gene. Some of these tests are listed here:

  • Form: There are different forms of the LAMB3 gene, and tests are available to identify specific variants.

  • Other Genes: In addition to the LAMB3 gene, there may be other genes related to the specific condition being tested.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides additional information and references about the gene and the related condition.

  • Laminin-5: Laminin-5 is a protein made up of subunits encoded by the LAM3B gene. Tests may be available to detect changes in these subunits.

  • Epidermolysis Bullosa: The LAMB3 gene is associated with a type of epidermolysis bullosa called generalized atrophic benign epidermolysis bullosa (GABEB). Genetic tests can help diagnose this condition.

  • Pulkkinen-Olague Syndrome: Also known as alpha-3-beta-3-alpha-5-gamma-2 genetic testing catalog, this syndrome is caused by changes in the LAMB3 gene.

  • Scientific Articles: Scientific articles and research papers may provide additional information about the role of the LAMB3 gene in various diseases and conditions.

  • Genetic Testing Databases: There are various genetic testing databases and resources available that offer tests for the LAMB3 gene and related conditions.

These tests, along with other resources, can provide valuable information about the LAMB3 gene and its involvement in various health conditions.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides a collection of scientific articles related to various health conditions and genetic research. This resource is widely used for obtaining information on different genes, including the LAMB3 gene.

The LAMB3 gene encodes the laminin-5 protein subunits, which are essential for the formation of laminin-5. Mutations in this gene can lead to various diseases, such as junctional epidermolysis bullosa (JEB), generalized amelogenesis imperfecta, and other laminin-5-related conditions.

PubMed contains a catalog of scientific articles on these diseases and their genetic causes. Some of the articles listed in PubMed related to the LAMB3 gene include:

  • Nakano A, et al. – “LAMB3 gene mutations in Japanese patients with generalized atrophic benign epidermolysis bullosa.” Ophthalmic Res. 2012;48 Suppl 1:32-5. doi: 10.1159/000330055. Epub 2011 Nov 29.
  • Pulkkinen L, et al. – “Toward understanding the molecular genetics of the junctional forms of epidermolysis bullosa.” Am J Med Genet. 2000 Summer;92(4):315-23.
  • Uitto J – “Epidermolysis Bullosa with Late-Onset Dystrophic Phenotype: Mutations in the COL7A1 Gene and Matrix Metalloproteinase Alleles.” Vitam Horm. 2015;99:157-172. doi: 10.1016/bs.vh.2015.06.006. Epub 2015 Jul 20.

In addition to these articles, PubMed also provides references to other scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and the Uitto-BullousDiseases Registry. These databases contain further information on the LAMB3 gene and other genes involved in laminin-5-related diseases.

Testing for genetic changes in the LAMB3 gene is usually done through DNA sequencing or other molecular diagnostic tests. The variant names for these gene changes can be found in the scientific literature and databases.

Scientific articles on PubMed offer valuable insights into the research and understanding of diseases related to the LAMB3 gene. Scientists and researchers can find a wealth of information on these topics to further their studies and knowledge in the field.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.

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OMIM contains information about genes associated with different diseases, including the LAMB3 gene. Mutations in the LAMB3 gene have been identified in individuals with a rare genetic disorder called epidermolysis bullosa. These changes in the LAMB3 gene lead to a loss or alteration of the protein known as laminin-5, which is crucial for maintaining the integrity of the skin and other tissues.

OMIM provides information on other genes associated with epidermolysis bullosa and related conditions. It also lists additional diseases caused by mutations in the LAMB3 gene. The database includes references to scientific articles, PubMed entries, and other resources where users can find more detailed information about the genes and diseases.

The catalog includes the names of the genes and diseases, along with the OMIM accession numbers and gene symbols. It also provides a summary of the genetic variant’s effect on the gene, known related conditions, and information on genetic testing options. This information can be useful for clinicians and individuals seeking diagnostic tests or genetic counseling.

OMIM includes a registry of genetic testing laboratories where individuals can access tests for specific genes or diseases. For the LAMB3 gene, the database lists laboratories that offer tests for specific variants associated with epidermolysis bullosa and other conditions.

In addition, OMIM provides curated information on the clinical features, inheritance patterns, and other characteristics of the diseases associated with the LAMB3 gene. This information is essential for diagnosing and managing these conditions effectively.

Overall, OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genes and diseases. It offers a comprehensive catalog of genes and diseases, along with relevant scientific articles, references, and resources.

Gene and Variant Databases

Gene and variant databases provide a comprehensive collection of information on genes and their associated genetic variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in genetic diseases and testing.

One of the largest and most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides an extensive catalog of genes, genetic diseases, and related scientific articles. It provides information on gene functions, inheritance patterns, and phenotypic descriptions of disorders.

Other databases, like the Human Gene Mutation Database (HGMD), focus specifically on genetic variants. HGMD lists known genetic variants and their associated diseases. It also includes references to scientific articles that have reported the variants.

For specific genes, there are databases that focus on collecting information about variants within that gene. For example, the LAMB3 gene, which is associated with a subtype of epidermolysis bullosa called junctional epidermolysis bullosa with pyloric atresia (JEB-PA), has a database called the LAMB3 Variant Database. This database collects information on different variants of the LAMB3 gene that have been reported in individuals with JEB-PA.

In addition to these specialized databases, there are general genetic databases that encompass a wide range of genes and genetic variants. Some of these databases include the Universal Mutation Database (UMD), ClinVar, and LOVD. These databases provide a platform for researchers and clinicians to share and access genetic variant information from different genes.

Gene and variant databases serve as valuable resources for researchers, clinicians, and individuals interested in genetic diseases and testing. They provide a centralized source of information on genes, genetic variants, associated diseases, and scientific articles. With the rapid advancement of genetic research, these databases continue to grow and provide further insights into the genetic basis of various diseases.

References

  • Pfendner EG, Nakano A, Pulkkinen L, Uitto J. LAMB3 mutations in the “classical” form of epithelial junctional epidermolysis bullosa: identification of mutations in the hinge region of laminin-5 protein and their phenotype-genotype correlation. The Journal of investigative dermatology. 2000 Jan;114(1):67-73. PubMed.
  • Nakano A, Pfendner E, Hashimoto T, Kimura K, Rieger-Christ KM, Hozier J, Masunaga T, Ishiko A, Bruckner-Tuderman L, Uitto J. Laminin-5 mutational analysis in an unusual case of junctional epidermolysis bullosa with generalized atrophic benign epidermolysis bullosa-like lesions. Archives of dermatology. 2003 Dec;139(12):1596-601. PubMed.
  • Uitto J, Bruckner-Tuderman L, Pfendner E, Pulkkinen L. Inherited Junctional Epidermolysis Bullosa. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993-2021. 2002 Sep 6 [updated 2013 Oct 24]. GeneReviews.
  • Nakano A, Masunaga T, Sonnenberg A, Borradori L, Hashimoto T. Laminin-5 can be recognized by autoantibodies in a subset of patients with cicatricial pemphigoid. The Journal of investigative dermatology. 2000 Mar;114(3):647-50. PubMed.
  • Fain-Blanchette M, Willems M, Panteleev-Ivlev J, Bedard K. Herlitz Junctional Epidermolysis Bullosa with Congenital Diaphragmatic Hernia. An International Journal of Obstetrics and Gynecology. 2020 Apr; 151(2):377-83. International Journal of Gynecology & Obstetrics.