LAMB3

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]

laminin, beta 3

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.

Animal organ morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Basement membrane assemblyManual Assertion Based On ExperimentIBA:GO_Central
Brown fat cell differentiationIEA:Ensembl
Cell migrationManual Assertion Based On ExperimentIBA:GO_Central
Endodermal cell differentiationManual Assertion Based On ExperimentIEP:UniProtKB
Epidermis developmentManual Assertion Based On ExperimentTAS:ProtInc
Substrate adhesion-dependent cell spreadingManual Assertion Based On ExperimentIBA:GO_Central
Tissue developmentManual Assertion Based On ExperimentIBA:GO_Central

Secreted, extracellular space, extracellular matrix, basement membrane

Epidermolysis bullosa, junctional, Herlitz type (H-JEB):
An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic.
Generalized atrophic benign epidermolysis bullosa (GABEB):
A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
Amelogenesis imperfecta 1A (AI1A):
A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration.