Gene Symbol | LAMB3 |
Entrez Gene ID | 3914 |
Full Name | laminin subunit beta 3 |
Synonyms | AI1A,BM600-125KDA,LAM5,LAMNB1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Amelogenesis imperfecta, type IA, 104530 (3) |