LAMB3

The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.

Domain VI is globular.

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.

Epidermolysis bullosa, junctional 1B, severe

JEB1B

A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1B is an autosomal recessive, severe form characterized by bullous lesions appearing at birth, and extensive denudation of skin and mucous membranes that may be hemorrhagic. Death occurs usually within the first six months of life. Occasionally, children survive to teens.

None

The disease is caused by variants affecting the gene represented in this entry.

Epidermolysis bullosa, junctional 1A, intermediate

JEB1A

A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1A is an autosomal recessive, non-lethal, adult form characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Found in the basement membranes (major component).

• Secreted
• Extracellular space
• Extracellular matrix
• Basement membrane

LAMNB1, LAMB3, Laminin subunit beta-3, Epiligrin subunit bata, Kalinin B1 chain, Kalinin subunit beta, Laminin B1k chain, Laminin-5 subunit beta, Nicein subunit beta

• entrezGene:3909
• entrezGene:3914
• entrezGene:3918
• omim:150310
• swissprot:Q13751
• swissprot:Q16787
• swissprot:Q13753

Proteins

Oncology

129572Da