Laminin subunit beta-3 is a
protein that in humans is encoded by the LAMB3gene.[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]
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.
PMID8530036.
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.
PMID9205497.
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.
PMID9501007.
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.
PMID9767254.
S2CID32996449.
Laminin subunit beta-3 is a
protein that in humans is encoded by the LAMB3gene.[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]
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.
PMID8530036.
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.
PMID9205497.
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.
PMID9501007.
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.
PMID9767254.
S2CID32996449.