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The product encoded by this gene 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.
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Protein Aliases: Epiligrin subunit bata; Kalinin B1 chain; Kalinin subunit beta; kalinin-140kDa; Laminin B1k chain; laminin beta 3; laminin S B3 chain; Laminin subunit beta-3; laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)); Laminin-5 subunit beta; Nicein subunit beta; nicein-125k; nicein-125kDa; RP1-272L16.3
Gene Aliases: AI1A; BM600-125KDA; LAM5; LAMB3; LAMNB1
UniProt ID: (Human) Q9UJL1
Entrez Gene ID: (Human) 3914
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