Recombinant Human Laminin subunit alpha-3 (LAMA3), partial

1. The study has identified two mutations in two large consanguineous pedigrees. Identification of novel variants in the LAMA3 and PLEC genes will expand the mutation spectrum and also help in genetic counselling of patients in the Pakistani population. PMID: 29797489
2. Seventeen percent of the patients were compound heterozygous or homozygous for mutations in the gene LAMA3, 59% carried mutations in both alleles of LAMB3, and 12% were homozygous for mutations in LAMC2. In nine patients with severe generalized JEB, detection of two mutations in one of the genes LAMA3, LAMB3, or LAMC2 was not possible, so the molecular basis of disease could not be clarified completely PMID: 27375110
3. Both parents had offspring affected with JEB and displayed subtle enamel pitting of secondary dentition without any sign of skin blistering. The reported enamel abnormality in LAMA3 mutation carriers could be attributed to a half dose effect of the laminin a3 chain PMID: 27827380
4. Loss of the normal basement membrane organization of alpha3 laminin observed in fibrotic regions from the lungs of patients with pulmonary fibrosis contributes to their disease progression. PMID: 25188360
5. Two of the six genes (LAMA3 and DST) validated by quantitative RT-PCR for tumor-specific alternative splicing events PMID: 24675808
6. LAMNA variants have been identified in atrial fibrillation cohort studies, demonstrating abnormalities in cardiac excitation - supra ventricular tachycardia and atrial fibrillation. PMID: 25443231
7. We established the LAMA3 gene as novel potential susceptibility gene for atopic dermatitis. PMID: 25363238
8. Expression of a3, beta3 and beta2 cannot predict the prognosis. However, high expression of beta2 mRNA in HCC/non-cancerous liver correlated significantly with the absence of complete encapsulation, which is an important tumor invasiveness factor. PMID: 21940345
9. Results describe a new pedigree identifying a novel mutation of LAMA3 in LOC syndrome PMID: 23869449
10. A male patient with Herlitz junctional epidermolysis bullosa with a novel homozygosity for insertion LAMA3 Premature Termination Codon mutation is described. Both parents and his sibling were shown to be heterozygous carriers. PMID: 22963541
11. High LAMA3 expression is associated with gastric cancer. PMID: 23907728
12. proteolytic processing of laminin-5 influences its interaction with alpha3beta1 integrin PMID: 14612440
13. The uncoordinated production of chains of ln-5 in allergic asthma could have a bearing on the poor epithelial cell anchorage in these patients. PMID: 16179086
14. tumor cell migration on laminin-5 is inhibited by HYD1, a biologically active integrin-targeting peptide PMID: 16537560
15. Laminin-5 alone stimulates global changes in gene/protein expression in mesenchymal stem cells that lead to commitment of these cells to the osteogenic phenotype, and this correlates with extracellular matrix production. PMID: 17137774
16. LM-332 is a crucial motility-promoting factor for B-CLL lymphocytes and is a potential constituent favoring the dissemination of B-CLL lymphocytes through vascular basement membranes and possibly lymph node compartments. PMID: 17482449
17. The major contributions of laminin-5 to the resistance of the epidermis against frictional stress but also for basement membrane regeneration and repair of damaged skin are reflected by the phenotype of Herlitz junctional epidermolysis bullosa. PMID: 17000025
18. Letter/Case Report: report novel LAMA3 mutations leading to enamel defects in epidermolysis bullosa. PMID: 22434185
19. Data show laminin-332 (alpha3ss3gamma2)(Lm332) matrix supported adhesion of keratinocytes much more strongly and stably than purified Lm332. PMID: 22563463
20. results suggest that Lm3B11/3B21 may be required for normal mature vessels and interfere with tumor angiogenesis PMID: 21276136
21. the LAMA3 LG45 domain may trigger different signals toward keratinocytes depending on its interaction with syndecan-1 or -4. PMID: 22351752
22. Cell surface COL17 can interact with laminin 332 and, together, participate in the adherence of a cell to the extracellular matrix. PMID: 21034821
23. SEMA3F, CLEC16A, LAMA3, and PCSK2 variants have roles in myocardial infarction in Japanese individuals PMID: 20036365
24. Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility. PMID: 19940114
25. the alpha3 subunit of laminins-332, -321, and -311 plays an important role in mediating epidermal-dermal integrity and is essential for the skin to withstand mechanical stresses PMID: 19945619
26. a hypoxia related splice variant of LAMA3 may have a role in progression of head and neck cancers PMID: 19936049
27. Characterization of morphological and cytoskeletal changes in MCF10A breast epithelial cells plated on laminin-5: comparison with breast cancer cell line MCF7. PMID: 11775027
28. Neurite outgrowth promoting sites have been identified on the laminin alpha 3 chain LG4 module. PMID: 12196012
29. In all developing organs investigated, the mRNA of the alpha3 chain of laminin is strictly of epithelial origin and the corresponding protein localised in the underlying basement membrane zones PMID: 12382139
30. These results suggest that the G3 domain of laminin 5 alpha 3 contains two distinct regions that differently regulate cell adhesion and migration. PMID: 12532327
31. laminin alpha 3 LG4 module may play an important role in tissue remodeling by inducing MMP-1 expression during wound healing PMID: 12826666
32. a missense mutation in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa PMID: 12943669
33. results demonstrate that the laminin alpha3 LG4/5 modules within unprocessed laminin-5 permit its cell binding activity through heparan and chondroitin sulfate chains of syndecan-1 PMID: 12947106
34. LAMA3 promoter methylation is associated with increased breast tumor stage and tumor size PMID: 14695139
35. Characterization of laminin 5B and NH2-terminal proteolytic fragment of its alpha3B chain PMID: 15044476
36. co-cultures of epithelial cells and fibroblasts were studied to analyse the processing of laminin 5 alpha3, beta3, and gamma2 chains PMID: 15149852
37. The G4/5 domain in the alpha3 chain facilitates deposition of precursor laminin 5 into the PBM in epidermal wounds PMID: 15316072
38. Premature termination codon mutations in both alleles of LAMB3 or LAMC2 genes were found in nine of the 11 H junctional epidermolysis bullosa patients PMID: 15373767
39. the LG4-5 domain synergistically enhances integrin signaling as it is released from the precursor LN5 PMID: 15695818
40. the absolute mRNA levels generated from the laminin 5 genes do not determine the translated protein levels of the laminin 5 chains in keratinocytes; the expression of the laminin 5 genes may be controlled by common regulation mechanisms PMID: 15854126
41. Suppression of laminin-5 alpha 3-chain expression in human mammary epithelial cells results in loss of reconstituted extracellular matrix-mediated growth control and apoptosis. PMID: 16219677
42. The hinge region between subdomains G3 and G4 of laminin alpha 3 carries the proteolytic cleavage sites but proteolytic processing plays no role in kerocyte migration. PMID: 16297184
43. Laminin-5 may contribute to the development of bone tissues by promoting the proliferation and by suppressing the chondrogenic differentiation of MSCs. PMID: 17071854
44. These results suggest a new possible approach to repairing SCI and, in general, a model which will be useful for other multidisciplinary procedures for complex neurological situations. PMID: 17466943
45. These results suggest that Crk is required for early attachment to laminin, cell motility, and growth of glioblastoma cell line KMG4. PMID: 17825249
46. the alpha3 chain can assemble with only beta3-gamma2 heterodimer to form a heterotrimer via disulfide bonds PMID: 18603785
47. Alpha3- and alpha5-laminins, but not other laminin isoforms, mediate mast cell adhesion via alpha3beta1 integrin. PMID: 19752234
48. immunofluorescence analyses revealed a basement membrane staining in epithelial tissue for LaNt alpha3 and LaNt alpha3 localized along the substratum-associated surface of cultured keratinocytes. PMID: 19773554

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HGNC: 6483

OMIM: 226700

KEGG: hsa:3909

STRING: 9606.ENSP00000324532

UniGene: Hs.436367