| LAMB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LAMB3, BM600-125KDA, LAM5, LAMNB1, AI1A, Laminin, beta 3, laminin subunit beta 3, JEB1B, JEB1A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 150310 MGI: 99915 HomoloGene: 191 GeneCards: LAMB3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Laminin subunit beta-3 is a protein that in humans is encoded by the LAMB3 gene.[5][6][7]
LAMB3 encodes the beta 3 subunit of laminin. Laminin is composed of three subunits (alpha, beta, and gamma), and refers to a family of basement membrane proteins. For example, LAMB3 serves as the beta chain in laminin-5. Mutations in LAMB3 have been identified as the cause of various types of epidermolysis bullosa. Two alternatively spliced transcript variants encoding the same protein have been found for this gene.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000196878 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026639 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Vailly J, Szepetowski P, Mattei MG, Pedeutour F, Burgeson R, Ortonne JP, Meneguzzi G (Oct 1994). "The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31". Genomics. 21 (1): 286–8. doi:10.1006/geno.1994.1263. PMID 8088808.
- ↑ Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J (Jul 1995). "Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa". Genomics. 25 (1): 192–8. doi:10.1016/0888-7543(95)80125-6. PMID 7774918.
- 1 2 "Entrez Gene: LAMB3 laminin, beta 3".
Further reading
- Gerecke DR, Wagman DW, Champliaud MF, Burgeson RE (1994). "The complete primary structure for a novel laminin chain, the laminin B1k chain". J. Biol. Chem. 269 (15): 11073–80. doi:10.1016/S0021-9258(19)78093-4. PMID 7512558.
- Pulkkinen L, McGrath JA, Christiano AM, Uitto J (1995). "Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)". Hum. Mutat. 6 (1): 77–84. doi:10.1002/humu.1380060115. PMID 7550237. S2CID 42814229.
- McGrath JA, Gatalica B, Christiano AM, et al. (1995). "Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa". Nat. Genet. 11 (1): 83–6. doi:10.1038/ng0995-83. PMID 7550320. S2CID 23732185.
- Pulkkinen L, Christiano AM, Gerecke D, et al. (1995). "A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa". Genomics. 24 (2): 357–60. doi:10.1006/geno.1994.1627. PMID 7698759.
- McGrath JA, Pulkkinen L, Christiano AM, et al. (1995). "Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa". J. Invest. Dermatol. 104 (4): 467–74. doi:10.1111/1523-1747.ep12605904. PMID 7706760.
- Rousselle P, Golbik R, van der Rest M, Aumailley M (1995). "Structural requirement for cell adhesion to kalinin (laminin-5)". J. Biol. Chem. 270 (23): 13766–70. doi:10.1074/jbc.270.23.13766. PMID 7775432.
- Morishima Y, Ariyama T, Yamanishi K, et al. (1996). "Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization". Genomics. 28 (2): 273–9. doi:10.1006/geno.1995.1141. PMID 8530036.
- Kivirikko S, McGrath JA, Pulkkinen L, et al. (1996). "Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa". Hum. Mol. Genet. 5 (2): 231–7. doi:10.1093/hmg/5.2.231. PMID 8824879.
- Ashton GH, Mellerio JE, Dunnill MG, et al. (1997). "A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele". Br. J. Dermatol. 136 (5): 674–7. doi:10.1111/j.1365-2133.1997.tb03650.x. PMID 9205497.
- Pulkkinen L, Meneguzzi G, McGrath JA, et al. (1997). "Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy". J. Invest. Dermatol. 109 (2): 232–7. doi:10.1111/1523-1747.ep12319752. PMID 9242513.
- Takizawa Y, Shimizu H, Pulkkinen L, et al. (1998). "Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing". J. Invest. Dermatol. 110 (2): 174–8. doi:10.1046/j.1523-1747.1998.00105.x. PMID 9457915.
- Posteraro P, Sorvillo S, Gagnoux-Palacios L, et al. (1998). "Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa". Biochem. Biophys. Res. Commun. 243 (3): 758–64. doi:10.1006/bbrc.1998.8180. PMID 9501007.
- Takizawa Y, Pulkkinen L, Shimizu H, et al. (1998). "Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa". J. Invest. Dermatol. 110 (5): 828–31. doi:10.1046/j.1523-1747.1998.00186.x. PMID 9579554.
- Mellerio JE, Eady RA, Atherton DJ, et al. (1999). "E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa". Br. J. Dermatol. 139 (2): 325–31. doi:10.1046/j.1365-2133.1998.02377.x. PMID 9767254. S2CID 32996449.
- Aho S, Uitto J (1999). "Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1". Matrix Biol. 17 (6): 401–12. doi:10.1016/S0945-053X(98)90100-7. PMID 9840442.
- Pulkkinen L, Uitto J (1999). "Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa". J. Invest. Dermatol. 111 (6): 1244–6. doi:10.1046/j.1523-1747.1998.00399.x. PMID 9856855.
- Chen M, Marinkovich MP, Jones JC, et al. (1999). "NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats". J. Invest. Dermatol. 112 (2): 177–83. doi:10.1046/j.1523-1747.1999.00491.x. PMID 9989793.
- Floeth M, Bruckner-Tuderman L (2000). "Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes". Am. J. Hum. Genet. 65 (6): 1530–7. doi:10.1086/302672. PMC 1288363. PMID 10577906.
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