{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Laminin subunit beta-3''' is a protein that in humans is encoded by the ''LAMB3'' gene.<ref name="pmid8088808">{{cite journal |vauthors=Vailly J, Szepetowski P, Mattei MG, Pedeutour F, Burgeson R, Ortonne JP, Meneguzzi G | title = The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31 | journal = Genomics | volume = 21 | issue = 1 | pages = 286–8 |date=Oct 1994 | pmid = 8088808 | doi = 10.1006/geno.1994.1263 }}</ref><ref name="pmid7774918">{{cite journal |vauthors=Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J | title = Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa | journal = Genomics | volume = 25 | issue = 1 | pages = 192–8 |date=Jul 1995 | pmid = 7774918 | doi =10.1016/0888-7543(95)80125-6 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: LAMB3 laminin, beta 3| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=3914}}</ref>
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.<ref name="entrez" />
==References== {{reflist}}
==Further reading== {{refbegin|35em}} *{{cite journal |vauthors=Gerecke DR, Wagman DW, Champliaud MF, Burgeson RE |title=The complete primary structure for a novel laminin chain, the laminin B1k chain |journal=J. Biol. Chem. |volume=269 |issue= 15 |pages= 11073–80 |year= 1994 |doi=10.1016/S0021-9258(19)78093-4 |pmid= 7512558 |doi-access=free }} *{{cite journal |vauthors=Pulkkinen L, McGrath JA, Christiano AM, Uitto J |title=Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3) |journal=Hum. Mutat. |volume=6 |issue= 1 |pages= 77–84 |year= 1995 |pmid= 7550237 |doi= 10.1002/humu.1380060115 |s2cid=42814229 |doi-access=free }} *{{cite journal |vauthors=McGrath JA, Gatalica B, Christiano AM, etal |title=Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa |journal=Nat. Genet. |volume=11 |issue= 1 |pages= 83–6 |year= 1995 |pmid= 7550320 |doi= 10.1038/ng0995-83 |s2cid=23732185 }} *{{cite journal |vauthors=Pulkkinen L, Christiano AM, Gerecke D, etal |title=A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa |journal=Genomics |volume=24 |issue= 2 |pages= 357–60 |year= 1995 |pmid= 7698759 |doi= 10.1006/geno.1994.1627 }} *{{cite journal |vauthors=McGrath JA, Pulkkinen L, Christiano AM, etal |title=Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa |journal=J. Invest. Dermatol. |volume=104 |issue= 4 |pages= 467–74 |year= 1995 |pmid= 7706760 |doi=10.1111/1523-1747.ep12605904 |doi-access=free }} *{{cite journal |vauthors=Rousselle P, Golbik R, van der Rest M, Aumailley M |title=Structural requirement for cell adhesion to kalinin (laminin-5) |journal=J. Biol. Chem. |volume=270 |issue= 23 |pages= 13766–70 |year= 1995 |pmid= 7775432 |doi=10.1074/jbc.270.23.13766 |doi-access=free }} *{{cite journal |vauthors=Morishima Y, Ariyama T, Yamanishi K, etal |title=Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization |journal=Genomics |volume=28 |issue= 2 |pages= 273–9 |year= 1996 |pmid= 8530036 |doi= 10.1006/geno.1995.1141 }} *{{cite journal |vauthors=Kivirikko S, McGrath JA, Pulkkinen L, etal |title=Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa |journal=Hum. Mol. Genet. |volume=5 |issue= 2 |pages= 231–7 |year= 1996 |pmid= 8824879 |doi=10.1093/hmg/5.2.231 |doi-access=free }} *{{cite journal |vauthors=Ashton GH, Mellerio JE, Dunnill MG, etal |title=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 |journal=Br. J. Dermatol. |volume=136 |issue= 5 |pages= 674–7 |year= 1997 |pmid= 9205497 |doi=10.1111/j.1365-2133.1997.tb03650.x }} *{{cite journal |vauthors=Pulkkinen L, Meneguzzi G, McGrath JA, etal |title=Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy |journal=J. Invest. Dermatol. |volume=109 |issue= 2 |pages= 232–7 |year= 1997 |pmid= 9242513 |doi=10.1111/1523-1747.ep12319752 |doi-access=free }} *{{cite journal |vauthors=Takizawa Y, Shimizu H, Pulkkinen L, etal |title=Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing |journal=J. Invest. Dermatol. |volume=110 |issue= 2 |pages= 174–8 |year= 1998 |pmid= 9457915 |doi= 10.1046/j.1523-1747.1998.00105.x |doi-access= free }} *{{cite journal |vauthors=Posteraro P, Sorvillo S, Gagnoux-Palacios L, etal |title=Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa |journal=Biochem. Biophys. Res. Commun. |volume=243 |issue= 3 |pages= 758–64 |year= 1998 |pmid= 9501007 |doi= 10.1006/bbrc.1998.8180 }} *{{cite journal |vauthors=Takizawa Y, Pulkkinen L, Shimizu H, etal |title=Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa |journal=J. Invest. Dermatol. |volume=110 |issue= 5 |pages= 828–31 |year= 1998 |pmid= 9579554 |doi= 10.1046/j.1523-1747.1998.00186.x |doi-access= free }} *{{cite journal |vauthors=Mellerio JE, Eady RA, Atherton DJ, etal |title=E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa |journal=Br. J. Dermatol. |volume=139 |issue= 2 |pages= 325–31 |year= 1999 |pmid= 9767254 |doi=10.1046/j.1365-2133.1998.02377.x |s2cid=32996449 }} *{{cite journal |vauthors=Aho S, Uitto J |title=Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1 |journal=Matrix Biol. |volume=17 |issue= 6 |pages= 401–12 |year= 1999 |pmid= 9840442 |doi=10.1016/S0945-053X(98)90100-7 }} *{{cite journal |vauthors=Pulkkinen L, Uitto J |title=Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa |journal=J. Invest. Dermatol. |volume=111 |issue= 6 |pages= 1244–6 |year= 1999 |pmid= 9856855 |doi= 10.1046/j.1523-1747.1998.00399.x |doi-access= free }} *{{cite journal |vauthors=Chen M, Marinkovich MP, Jones JC, etal |title=NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats |journal=J. Invest. Dermatol. |volume=112 |issue= 2 |pages= 177–83 |year= 1999 |pmid= 9989793 |doi= 10.1046/j.1523-1747.1999.00491.x |doi-access= free }} *{{cite journal |vauthors=Floeth M, Bruckner-Tuderman L |title=Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes |journal=Am. J. Hum. Genet. |volume=65 |issue= 6 |pages= 1530–7 |year= 2000 |pmid= 10577906 |doi=10.1086/302672 | pmc=1288363 }} {{refend}}
{{Fibrous proteins}}
Category:Laminins
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