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Gene Review

LAMB3  -  laminin, beta 3

Homo sapiens

Synonyms: BM600-125KDA, BM600-125kDa, Epiligrin subunit bata, Kalinin B1 chain, Kalinin subunit beta, ...
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Disease relevance of LAMB3


High impact information on LAMB3


Biological context of LAMB3


Anatomical context of LAMB3


Regulatory relationships of LAMB3


Other interactions of LAMB3

  • Collectively, five mutations appeared to be frequent in laminin-5 JEB patients: R635X, 29insC, E210K, W143X in LAMB3 and R95X in LAMC2 [10].
  • Comparison of the LAMB3 gene structure with the previously characterized LAMB1 gene revealed that LAMB3 was considerably more compact [17].
  • PTGFR, and LAMB3 localized at both ends of the HSA1 region were assigned to SSC6 and SSC9, respectively, which is consistent with regional correspondence reported earlier [18].
  • The index patient was compound heterozygous for the COL17A1 mutations L855X and R1226X and was heterozygous for the LAMB3 mutation R635X [7].
  • Reverse transcriptase polymerase chain reaction analysis suggested skipping of exon 19 in LAMB3 mRNA produced from the allele with 2702-29del94 and impaired stability of the aberrant mRNA transcribed from the second allele with the 1977-2A-->G mutation [19].

Analytical, diagnostic and therapeutic context of LAMB3


  1. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. Robbins, P.B., Lin, Q., Goodnough, J.B., Tian, H., Chen, X., Khavari, P.A. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  2. Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). Pulkkinen, L., McGrath, J.A., Christiano, A.M., Uitto, J. Hum. Mutat. (1995) [Pubmed]
  3. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. McGrath, J.A., Ashton, G.H., Mellerio, J.E., Salas-Alanis, J.C., Swensson, O., McMillan, J.R., Eady, R.A. J. Invest. Dermatol. (1999) [Pubmed]
  4. Aberrant promoter methylation of laminin-5-encoding genes in prostate cancers and its relationship to clinicopathological features. Sathyanarayana, U.G., Padar, A., Suzuki, M., Maruyama, R., Shigematsu, H., Hsieh, J.T., Frenkel, E.P., Gazdar, A.F. Clin. Cancer Res. (2003) [Pubmed]
  5. Aberrant promoter methylation and silencing of laminin-5-encoding genes in breast carcinoma. Sathyanarayana, U.G., Padar, A., Huang, C.X., Suzuki, M., Shigematsu, H., Bekele, B.N., Gazdar, A.F. Clin. Cancer Res. (2003) [Pubmed]
  6. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. McGrath, J.A., Gatalica, B., Christiano, A.M., Li, K., Owaribe, K., McMillan, J.R., Eady, R.A., Uitto, J. Nat. Genet. (1995) [Pubmed]
  7. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Floeth, M., Bruckner-Tuderman, L. Am. J. Hum. Genet. (1999) [Pubmed]
  8. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Pulkkinen, L., Bullrich, F., Czarnecki, P., Weiss, L., Uitto, J. Am. J. Hum. Genet. (1997) [Pubmed]
  9. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. Takizawa, Y., Pulkkinen, L., Shimizu, H., Lin, L., Hagiwara, S., Nishikawa, T., Uitto, J. J. Invest. Dermatol. (1998) [Pubmed]
  10. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. Posteraro, P., De Luca, N., Meneguzzi, G., El Hachem, M., Angelo, C., Gobello, T., Tadini, G., Zambruno, G., Castiglia, D. J. Invest. Dermatol. (2004) [Pubmed]
  11. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa. Dellambra, E., Vailly, J., Pellegrini, G., Bondanza, S., Golisano, O., Macchia, C., Zambruno, G., Meneguzzi, G., De Luca, M. Hum. Gene Ther. (1998) [Pubmed]
  12. Molecular detection of noninvasive and invasive bladder tumor tissues and exfoliated cells by aberrant promoter methylation of laminin-5 encoding genes. Sathyanarayana, U.G., Maruyama, R., Padar, A., Suzuki, M., Bondaruk, J., Sagalowsky, A., Minna, J.D., Frenkel, E.P., Grossman, H.B., Czerniak, B., Gazdar, A.F. Cancer Res. (2004) [Pubmed]
  13. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. Takizawa, Y., Shimizu, H., Pulkkinen, L., Hiraoka, Y., McGrath, J.A., Suzumori, K., Aiso, S., Uitto, J., Nishikawa, T. J. Invest. Dermatol. (1998) [Pubmed]
  14. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Pulkkinen, L., Cserhalmi-Friedman, P.B., Tang, M., Ryan, M.C., Uitto, J., Christiano, A.M. Lab. Invest. (1998) [Pubmed]
  15. Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. Jiang, Q.J., Izakovic, J., Zenker, M., Fartasch, M., Meneguzzi, G., Rascher, W., Schneider, H. J. Pediatr. (2002) [Pubmed]
  16. Membrane type-1-matrix metalloproteinase expressed by prostate carcinoma cells cleaves human laminin-5 beta3 chain and induces cell migration. Udayakumar, T.S., Chen, M.L., Bair, E.L., Von Bredow, D.C., Cress, A.E., Nagle, R.B., Bowden, G.T. Cancer Res. (2003) [Pubmed]
  17. Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Pulkkinen, L., Gerecke, D.R., Christiano, A.M., Wagman, D.W., Burgeson, R.E., Uitto, J. Genomics (1995) [Pubmed]
  18. Elucidation of correspondence between swine chromosome 4 and human chromosome 1 by assigning 27 genes to the ImpRH map, and development of microsatellites in the proximity of 14 genes. Hiraiwa, H., Sawazaki, T., Suzuki, K., Fujishima-Kanaya, N., Toki, D., Ito, Y., Uenishi, H., Hayashi, T., Awata, T., Yasue, H. Cytogenet. Genome Res. (2003) [Pubmed]
  19. Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa. Takizawa, Y., Hiraoka, Y., Takahashi, H., Ishiko, A., Yasuraoka, I., Hashimoto, I., Aiso, S., Nishikawa, T., Shimizu, H. J. Invest. Dermatol. (2000) [Pubmed]
  20. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. Pulkkinen, L., Meneguzzi, G., McGrath, J.A., Xu, Y., Blanchet-Bardon, C., Ortonne, J.P., Christiano, A.M., Uitto, J. J. Invest. Dermatol. (1997) [Pubmed]
  21. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. Vailly, J., Pulkkinen, L., Miquel, C., Christiano, A.M., Gerecke, D., Burgeson, R.E., Uitto, J., Ortonne, J.P., Meneguzzi, G. J. Invest. Dermatol. (1995) [Pubmed]
  22. Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. McGrath, J.A., McMillan, J.R., Dunnill, M.G., Pulkkinen, L., Christiano, A.M., Rodeck, C.H., Eady, R.A., Uitto, J. Prenat. Diagn. (1995) [Pubmed]
  23. Aberrant laminin beta3 isoforms downstream of EWS-ETS fusion genes in Ewing family tumors. Irifune, H., Nishimori, H., Watanabe, G., Yoshida, K., Ikeda, T., Matsui, C., Morohashi, M., Kawaguchi, S., Nagoya, S., Wada, T., Yamashita, T., Nakamura, Y., Tokino, T. Cancer Biol. Ther. (2005) [Pubmed]
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