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Gene Review

LAMC1  -  laminin, gamma 1 (formerly LAMB2)

Homo sapiens

Synonyms: LAMB2, Laminin B2 chain, Laminin subunit gamma-1, Laminin-1 subunit gamma, Laminin-10 subunit gamma, ...
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Disease relevance of LAMC1

  • Localized and generalized Mitis types as well as the majority of tested families with the Herlitz type of junctional epidermolysis bullosa appeared not to be similarly linked or associated to LAMC1 [1].
  • The exon-intron structure of the human laminin B2 chain gene was elucidated from genomic lambda phage clones spanning 2 kilobase pairs (kb) of the 5'-flanking region, 58 kb of the structural gene and 10 kb of the 3'-flanking region [2].
  • Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse [3].

High impact information on LAMC1


Biological context of LAMC1

  • The four patients of these families are all homozygous for the 146 bp LAMC1 allele present only on 5% of random Norwegian chromosomes [1].
  • The LAMC2 gene contains 23 exons and is structurally highly homologous with the 28-exon LAMC1 gene (Kallunki et al., 1991, J. Biol. Chem. 266: 221-228), with 16 exons having identical sizes in the two genes [6].
  • Of the genes confirmed to be expressed, LAMC1 was further evaluated by sequencing and select single nucleotide polymorphism (SNP) genotyping for causative sequence variants in affected family members [3].
  • Three informative families show a lod score of +1.65 at zero recombination to a trinucleotide repeat marker in intron 20 of the laminin gamma 1 (LAMC1, previously LAMB2) locus on 1q31 [1].
  • A laminin B2 chain cDNA clone was isolated from a human lung cDNA library by screening with antibody against mouse laminin [7].

Anatomical context of LAMC1


Associations of LAMC1 with chemical compounds


Other interactions of LAMC1

  • The candidate genes LAMC1, NPR1, and CNR2 were excluded from the region by linkage [11].
  • Structure of the human laminin B2 chain gene reveals extensive divergence from the laminin B1 chain gene [2].
  • Products from the proteolytic cleavage of the A and B2 chains of laminin were observed with the sites of cleavage determined to be at position 2666 in the laminin A chain and position 1238 in the laminin B2 chain [12].
  • Using GATA6 transformed Lamc1-null endoderm-like cells, we demonstrate that laminin 1 exhibited by the basement membrane induces epiblast differentiation and cavitation by cell-to-matrix/matrix-to-cell interactions that are similar to the in vivo crosstalk in the early embryo [13].


  1. Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. Gedde-Dahl, T., Dupuy, B.M., Jonassen, R., Winberg, J.O., Anton-Lamprecht, I., Olaisen, B. Hum. Mol. Genet. (1994) [Pubmed]
  2. Structure of the human laminin B2 chain gene reveals extensive divergence from the laminin B1 chain gene. Kallunki, T., Ikonen, J., Chow, L.T., Kallunki, P., Tryggvason, K. J. Biol. Chem. (1991) [Pubmed]
  3. Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Nikolova, G., Lee, H., Berkovitz, S., Nelson, S., Sinsheimer, J., Vilain, E., Rodríguez, L.V. Hum. Genet. (2007) [Pubmed]
  4. Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. Smyth, N., Vatansever, H.S., Murray, P., Meyer, M., Frie, C., Paulsson, M., Edgar, D. J. Cell Biol. (1999) [Pubmed]
  5. A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T.B., Tryggvason, K. J. Cell Biol. (1992) [Pubmed]
  6. Structure of the human laminin gamma 2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts. Airenne, T., Haakana, H., Sainio, K., Kallunki, T., Kallunki, P., Sariola, H., Tryggvason, K. Genomics (1996) [Pubmed]
  7. cDNA cloning, expression and mapping of human laminin B2 gene to chromosome 1q31. Mattei, M.G., Weil, D., Pribula-Conway, D., Bernard, M.P., Passage, E., Van Cong, N., Timpl, R., Chu, M.L. Hum. Genet. (1988) [Pubmed]
  8. Isolation of a human laminin B2 (LAMB2) cDNA clone and assignment of the gene to chromosome region 1q25----q31. Fukushima, Y., Pikkarainen, T., Kallunki, T., Eddy, R.L., Byers, M.G., Haley, L.L., Henry, W.M., Tryggvason, K., Shows, T.B. Cytogenet. Cell Genet. (1988) [Pubmed]
  9. Activation of a nuclear DNA-binding protein recognized by a transcriptional element, bcn-1, from the laminin B2 chain gene promoter. Suzuki, H., O'Neill, B.C., Suzuki, Y., Denisenko, O.N., Bomsztyk, K. J. Biol. Chem. (1996) [Pubmed]
  10. The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant. Vailly, J., Verrando, P., Champliaud, M.F., Gerecke, D., Wagman, D.W., Baudoin, C., Aberdam, D., Burgeson, R., Bauer, E., Ortonne, J.P. Eur. J. Biochem. (1994) [Pubmed]
  11. Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes. Sunden, S.L., Alward, W.L., Nichols, B.E., Rokhlina, T.R., Nystuen, A., Stone, E.M., Sheffield, V.C. Genome Res. (1996) [Pubmed]
  12. Proteolytic digestion of non-collagenous basement membrane proteins by the hemorrhagic metalloproteinase Ht-e from Crotalus atrox venom. Baramova, E.N., Shannon, J.D., Fox, J.W., Bjarnason, J.B. Biomed. Biochim. Acta (1991) [Pubmed]
  13. Distinct GATA6- and laminin-dependent mechanisms regulate endodermal and ectodermal embryonic stem cell fates. Li, L., Arman, E., Ekblom, P., Edgar, D., Murray, P., Lonai, P. Development (2004) [Pubmed]
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