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Gene Review

LAMA2  -  laminin, alpha 2

Homo sapiens

Synonyms: LAMM, Laminin M chain, Laminin subunit alpha-2, Laminin-12 subunit alpha, Laminin-2 subunit alpha, ...


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Disease relevance of LAMA2


High impact information on LAMA2

  • Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy [3].
  • The laminin alpha 2 chain gene (LAMA2) maps to the same region on chromosome 6q22-23 (ref. 5). We therefore investigated LAMA2 for the presence of disease-causing mutations in laminin alpha 2 chain-deficient CMD families and now report splice site and nonsense mutations in two families leading presumably to a truncated laminin alpha 2 protein [3].
  • LAMA2 deposition around muscle fibers was often segmental and seemed to radiate from the center to the periphery of the injection site [4].
  • However, not all myoblasts, or myoblasts alone, or the muscle fibers they form are capable of LAMA2 secretion and deposition in vivo [4].
  • Following the discovery of merosin deficiency in some CMD cases, we have localized, by homozygosity mapping and linkage analysis (Zmax = 5.6; theta = 0.0 for marker AFM127xb2) in four merosin-negative families a CMD gene in a 16 cM region of chromosome 6q2 in the region of the laminin M chain gene [5].

Biological context of LAMA2

  • Two forms are defined at the molecular level: merosin deficient-CMD caused by mutations in the LAMA2-gene on chromosome 6q2 [6].
  • Comparison of the exon pattern of the human LAMA2 gene with that of the Drosophila LAMA gene revealed that only 2 of 63 intron locations in the 5'-end of the human gene match the intron locations in the Drosophila gene, which contains 14 introns [7].
  • These mutations cause a disruption of the open reading frame of LAMA2 [8].
  • In 2 patients, the Cys967Stop mutation and identical haplotypes flanking the LAMA2 gene indicated a founder effect [9].
  • CONCLUSIONS: The clinical phenotype was severe in most patients with LAMA2 mutations and associated with undetectable protein expression [9].

Anatomical context of LAMA2


Associations of LAMA2 with chemical compounds

  • Notably, three patients with laminin alpha2 deficiency were asymptomatic, 10 patients had normal MRI (four with LAMA2 mutations reported), and between 10-20% of cases had maximum recorded creatine kinase of less than 1000 U/l. LAMA2 mutations have been identified in 25% of cases [14].
  • All subjects were undergoing opiate detoxification with either methadone or the longer-acting 1-alpha acetylmethadol (LAMM) [15].

Other interactions of LAMA2


Analytical, diagnostic and therapeutic context of LAMA2


  1. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Talim, B., Ferreiro, A., Cormand, B., Vignier, N., Oto, A., Göğüş, S., Cila, A., Lehesjoki, A.E., Pihko, H., Guicheney, P., Topaloğlu, H. Neuromuscul. Disord. (2000) [Pubmed]
  2. Decorin and biglycan expression is differentially altered in several muscular dystrophies. Zanotti, S., Negri, T., Cappelletti, C., Bernasconi, P., Canioni, E., Di Blasi, C., Pegoraro, E., Angelini, C., Ciscato, P., Prelle, A., Mantegazza, R., Morandi, L., Mora, M. Brain (2005) [Pubmed]
  3. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Helbling-Leclerc, A., Zhang, X., Topaloglu, H., Cruaud, C., Tesson, F., Weissenbach, J., Tomé, F.M., Schwartz, K., Fardeau, M., Tryggvason, K. Nat. Genet. (1995) [Pubmed]
  4. Partial laminin alpha2 chain restoration in alpha2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation. Vilquin, J.T., Kinoshita, I., Roy, B., Goulet, M., Engvall, E., Tomé, F., Fardeau, M., Tremblay, J.P. J. Cell Biol. (1996) [Pubmed]
  5. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hillaire, D., Leclerc, A., Fauré, S., Topaloglu, H., Chiannilkulchaï, N., Guicheney, P., Grinas, L., Legos, P., Philpot, J., Evangelista, T. Hum. Mol. Genet. (1994) [Pubmed]
  6. Congenital muscular dystrophies: 1997 update. Voit, T. Brain Dev. (1998) [Pubmed]
  7. Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. Zhang, X., Vuolteenaho, R., Tryggvason, K. J. Biol. Chem. (1996) [Pubmed]
  8. Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online. Mendell, J.T., Panicker, S.G., Tsao, C.Y., Feng, B., Sahenk, Z., Marzluf, G.A., Mendell, J.R. Hum. Mutat. (1998) [Pubmed]
  9. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Di Blasi, C., Piga, D., Brioschi, P., Moroni, I., Pini, A., Ruggieri, A., Zanotti, S., Uziel, G., Jarre, L., Della Giustina, E., Scuderi, C., Jonsrud, C., Mantegazza, R., Morandi, L., Mora, M. Arch. Neurol. (2005) [Pubmed]
  10. Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. Kuang, W., Xu, H., Vilquin, J.T., Engvall, E. Lab. Invest. (1999) [Pubmed]
  11. Prenatal diagnosis in merosin-deficient congenital muscular dystrophy. Naom, I., Sewry, C., D'Alessandro, M., Topaloglu, H., Ferlini, A., Wilson, L., Dubowitz, V., Muntoni, F. Neuromuscul. Disord. (1997) [Pubmed]
  12. Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency. Deodato, F., Sabatelli, M., Ricci, E., Mercuri, E., Muntoni, F., Sewry, C., Naom, I., Tonali, P., Guzzetta, F. Neuromuscul. Disord. (2002) [Pubmed]
  13. Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy. Yamamoto, L.U., Gollop, T.R., Naccache, N.F., Pavanello, R.C., Zanoteli, E., Zatz, M., Vainzof, M. Diagn. Mol. Pathol. (2004) [Pubmed]
  14. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. Jones, K.J., Morgan, G., Johnston, H., Tobias, V., Ouvrier, R.A., Wilkinson, I., North, K.N. J. Med. Genet. (2001) [Pubmed]
  15. Pupillometric changes during gradual opiate detoxification correlate with changes in symptoms of opiate withdrawal as measured by the Weak Opiate Withdrawal Scale. Rosse, R.B., Johri, S., Goel, M., Rahman, F., Jawor, K.A., Deutsch, S.I. Clinical neuropharmacology. (1998) [Pubmed]
  16. The complete cDNA sequence of laminin alpha 4 and its relationship to the other human laminin alpha chains. Richards, A., Al-Imara, L., Pope, F.M. Eur. J. Biochem. (1996) [Pubmed]
  17. Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. Ruggieri, V., Lubieniecki, F., Meli, F., Diaz, D., Ferragut, E., Saito, K., Brockington, M., Muntoni, F., Fukuyama, Y., Taratuto, A.L. Neuromuscul. Disord. (2001) [Pubmed]
  18. Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Guicheney, P., Vignier, N., Helbling-Leclerc, A., Nissinen, M., Zhang, X., Cruaud, C., Lambert, J.C., Richelme, C., Topaloglu, H., Merlini, L., Barois, A., Schwartz, K., Tomé, F.M., Tryggvason, K., Fardeau, M. Neuromuscul. Disord. (1997) [Pubmed]
  19. EMG and nerve conduction studies in children with congenital muscular dystrophy. Quijano-Roy, S., Renault, F., Romero, N., Guicheney, P., Fardeau, M., Estournet, B. Muscle Nerve (2004) [Pubmed]
  20. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Moghadaszadeh, B., Desguerre, I., Topaloglu, H., Muntoni, F., Pavek, S., Sewry, C., Mayer, M., Fardeau, M., Tomé, F.M., Guicheney, P. Am. J. Hum. Genet. (1998) [Pubmed]
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