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Gene Review

LAMA3  -  laminin, alpha 3

Homo sapiens

Synonyms: BM600, BM600-150kDa, E170, Epiligrin 170 kDa subunit, Epiligrin subunit alpha, ...
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Disease relevance of LAMA3


High impact information on LAMA3


Chemical compound and disease context of LAMA3


Biological context of LAMA3


Anatomical context of LAMA3


Associations of LAMA3 with chemical compounds


Physical interactions of LAMA3


Regulatory relationships of LAMA3

  • In this paper, we show evidence that this repression of the lama3 gene is relieved by exogenous and UV-induced USF-1 through its interaction with a non-canonical E-box site [20].

Other interactions of LAMA3


Analytical, diagnostic and therapeutic context of LAMA3

  • This strategy, based on PCR amplification of genomic sequences, followed by heteroduplex scanning and automated nucleotide sequencing, was used for successful mutation screening in a family with the lethal (Herlitz) type of JEB, and two novel LAMA3 mutations were identified in the proband [26].
  • In contrast, with immunoprecipitation of either culture medium or cell lysate from normal keratinocytes, the patient's serum clearly reacted with the protein epiligrin, a laminin isoform present in the lamina lucida of the human epidermal basement membrane zone [27].
  • BM 600/nicein, epiligrin and kalinin were not detected after treatment with trypsin [28].
  • Densitometry was performed on the nuclear area of all photographs including the LOCS III standards, using a photometrically corrected photocell [29].
  • Significant cataract progression was defined as either cataract extraction in the surgical eye or a greater than a 0.9 LOCS III unit difference in lens opacity between the surgical and nonsurgical eye [30].


  1. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Kivirikko, S., McGrath, J.A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M.G., McMillan, J.R., Eady, R.A., Ortonne, J.P., Meneguzzi, G. Hum. Mol. Genet. (1995) [Pubmed]
  2. 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]
  3. 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]
  4. Putative gene loci associated with carcinogenesis and metastasis of endocervical adenocarcinomas of uterus determined by conventional and array-based CGH. Hirai, Y., Utsugi, K., Takeshima, N., Kawamata, Y., Furuta, R., Kitagawa, T., Kawaguchi, T., Hasumi, K., Noda, T., Noda, S.T. Am. J. Obstet. Gynecol. (2004) [Pubmed]
  5. Epiligrin, the major human keratinocyte integrin ligand, is a target in both an acquired autoimmune and an inherited subepidermal blistering skin disease. Domloge-Hultsch, N., Gammon, W.R., Briggaman, R.A., Gil, S.G., Carter, W.G., Yancey, K.B. J. Clin. Invest. (1992) [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. Epiligrin, a new cell adhesion ligand for integrin alpha 3 beta 1 in epithelial basement membranes. Carter, W.G., Ryan, M.C., Gahr, P.J. Cell (1991) [Pubmed]
  8. Anti-basement membrane autoantibodies in patients with anti-epiligrin cicatricial pemphigoid bind the alpha subunit of laminin 5. Kirtschig, G., Marinkovich, M.P., Burgeson, R.E., Yancey, K.B. J. Invest. Dermatol. (1995) [Pubmed]
  9. Age-related nuclear lens opacities are associated with reduced growth before 1 year of age. Evans, J.R., Rauf, A., Aihie Sayer, A., Wormald, R.P., Cooper, C. Invest. Ophthalmol. Vis. Sci. (1998) [Pubmed]
  10. Abnormal expression of epiligrin and alpha 6 beta 4 integrin in basal cell carcinoma. Schofield, O., Kist, D., Lucas, A., Wayner, E., Carter, W., Zachary, C. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]. (1998) [Pubmed]
  11. Quantitative analysis of laminin 5 gene expression in human keratinocytes. Akutsu, N., Amano, S., Nishiyama, T. Exp. Dermatol. (2005) [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. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. Ryan, M.C., Lee, K., Miyashita, Y., Carter, W.G. J. Cell Biol. (1999) [Pubmed]
  14. Abnormal development of glomerular endothelial and mesangial cells in mice with targeted disruption of the lama3 gene. Abrass, C.K., Berfield, A.K., Ryan, M.C., Carter, W.G., Hansen, K.M. Kidney Int. (2006) [Pubmed]
  15. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. McGrath, J.A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A.M., Uitto, J. J. Invest. Dermatol. (1996) [Pubmed]
  16. Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment. Champliaud, M.F., Lunstrum, G.P., Rousselle, P., Nishiyama, T., Keene, D.R., Burgeson, R.E. J. Cell Biol. (1996) [Pubmed]
  17. Anchorage mediated by integrin alpha6beta4 to laminin 5 (epiligrin) regulates tyrosine phosphorylation of a membrane-associated 80-kD protein. Xia, Y., Gil, S.G., Carter, W.G. J. Cell Biol. (1996) [Pubmed]
  18. The function and distinctive regulation of the integrin VLA-3 in cell adhesion, spreading, and homotypic cell aggregation. Weitzman, J.B., Pasqualini, R., Takada, Y., Hemler, M.E. J. Biol. Chem. (1993) [Pubmed]
  19. Antiepiligrin cicatricial pemphigoid. A subepithelial bullous disorder. Domloge-Hultsch, N., Anhalt, G.J., Gammon, W.R., Lazarova, Z., Briggaman, R., Welch, M., Jabs, D.A., Huff, C., Yancey, K.B. Archives of dermatology. (1994) [Pubmed]
  20. Binding of USF to a non-canonical E-box following stress results in a cell-specific derepression of the lama3 gene. Virolle, T., Coraux, C., Ferrigno, O., Cailleteau, L., Ortonne, J.P., Pognonec, P., Aberdam, D. Nucleic Acids Res. (2002) [Pubmed]
  21. Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Pohla-Gubo, G., Lazarova, Z., Giudice, G.J., Liebert, M., Grassegger, A., Hintner, H., Yancey, K.B. Exp. Dermatol. (1995) [Pubmed]
  22. Marked stimulation of cell adhesion and motility by ladsin, a laminin-like scatter factor. Kikkawa, Y., Umeda, M., Miyazaki, K. J. Biochem. (1994) [Pubmed]
  23. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Thornhill, A.R., McGrath, J.A., Eady, R.A., Braude, P.R., Handyside, A.H. Prenat. Diagn. (2001) [Pubmed]
  24. Elasmobranchs express separate cholecystokinin and gastrin genes. Johnsen, A.H., Jonson, L., Rourke, I.J., Rehfeld, J.F. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  25. Adhesion molecules VLA-1 to VLA-6 define discrete stages of peripheral B lymphocyte development and characterize different types of B cell neoplasia. Möller, P., Eichelmann, A., Koretz, K., Mechtersheimer, G. Leukemia (1992) [Pubmed]
  26. 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]
  27. Antiepiligrin cicatricial pemphigoid: the first case report from Japan. Hashimoto, T., Murakami, H., Senboshi, Y., Kanzaki, H., Arata, J., Yancey, K.B., Nishikawa, T. J. Am. Acad. Dermatol. (1996) [Pubmed]
  28. Labeling of fractured human skin with antibodies to BM 600/nicein, epiligrin, kalinin and other matrix components. Ceilley, E., Watanabe, N., Shapiro, D., Verrando, P., Bauer, E.A., Burgeson, R., Briggaman, R.A., Woodley, D.T. J. Dermatol. Sci. (1993) [Pubmed]
  29. Conversion of lens slit lamp photographs into physical light-scattering units. van den Berg, T.J., Coppens, J.C. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  30. Nuclear sclerotic cataract after vitrectomy in patients younger than 50 years of age. Melberg, N.S., Thomas, M.A. Ophthalmology (1995) [Pubmed]
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