Aliases for LAMB3 Gene
External Ids for LAMB3 Gene
Previous HGNC Symbols for LAMB3 Gene
Previous GeneCards Identifiers for LAMB3 Gene
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]
GeneCards Summary for LAMB3 Gene
LAMB3 (Laminin Subunit Beta 3) is a Protein Coding gene. Diseases associated with LAMB3 include Epidermolysis Bullosa, Junctional, Herlitz Type and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. Among its related pathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. GO annotations related to this gene include structural molecule activity and protein complex binding. An important paralog of this gene is LAMB2.
UniProtKB/Swiss-Prot for LAMB3 Gene
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.