Laminin Beta 3 (LAMb3)

LAM-B3; LAMNB1; Nicein subunit beta; Kalinin subunit beta; Epiligrin subunit bata; Laminin B1k chain; Laminin-5 subunit beta

SPN	U763
HGNC	6490
MGI	99915
PubMed	9690563
RGD	1562668
UniProt	Q13751
Wiki	LAMB3

LAMB3 is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene.LAMb3 is approximately 29 kb long and consists of 23 exons that vary from 64 to 379 basepairs, accounting for the full-length cDNA with an open reading frame of 3,516 bp encoding 1,172 amino acids. In comparison with the LAMB1 gene, LAMB3 is considerably more compact.

Reference

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J. Biol. Chem. 269:11073-11080(1994) [PubMed] [Europe PMC] [Abstract]

"Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa."
Genomics 25:192-198(1995) [PubMed] [Europe PMC] [Abstract]

"Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization."
Genomics 28:273-279(1995) [PubMed] [Europe PMC] [Abstract]

"In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa."
Proc. Natl. Acad. Sci. U.S.A. 98:5193-5198(2001) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain."
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"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)."
Hum. Mutat. 6:77-84(1995) [PubMed] [Europe PMC] [Abstract]

"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. 139:325-331(1998) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3."
J. Clin. Invest. 117:1240-1248(2007) [PubMed] [Europe PMC] [Abstract]