LAMC2

Domain

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

Domain IV is globular.

Function

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. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells.

Involvement in disease

Epidermolysis bullosa, junctional 3A, intermediate

JEB3A

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. JEB3A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur.

None

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

Epidermolysis bullosa, junctional 3B, severe

JEB3B

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. JEB3B is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. It belongs to the severe spectrum of junctional epidermolysis bullosa (previously known as generalized severe or Herlitz type), characterized by onset of blistering over large regions of the body at birth or in early infancy. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Other complications can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities, dental enamel defects, and alopecia. Severe, junctional forms are associated with death in the first 6 to 24 months of life.

None

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

Post-translational modifications

O-glycosylated; contains chondroitin sulfate (CS). CS attachment is on either Ser-803 or Ser-805.

Tissue Specificity

The large variant is expressed only in specific epithelial cells of embryonic and neonatal tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney, but not in epithelia except for distal tubuli.

Cellular localization

• Secreted
• Extracellular space
• Extracellular matrix
• Basement membrane
• Major component.

Alternative names

LAMB2T, LAMNB2, LAMC2, Laminin subunit gamma-2, Cell-scattering factor 140 kDa subunit, Epiligrin subunit gamma, Kalinin subunit gamma, Kalinin/nicein/epiligrin 100 kDa subunit, Ladsin 140 kDa subunit, Laminin B2t chain, Laminin-5 subunit gamma, Large adhesive scatter factor 140 kDa subunit, Nicein subunit gamma, CSF 140 kDa subunit

Database links

swissprot:Q13753 omim:150292 swissprot:Q16787 swissprot:Q13751 entrezGene:3918 entrezGene:3914 entrezGene:3909