LAMC2 gene
The LAMC2 gene provides essential instructions for producing the gamma subunit of laminin 332, a protein critical for skin integrity and wound healing.
Normal Function
The LAMC2 gene provides instructions for making one part (subunit) of a protein called laminin 332 (formerly known as laminin 5). This protein is made up of three subunits: alpha, beta, and gamma. The LAMC2 gene carries instructions for the gamma subunit, while the alpha and beta subunits are produced from other genes.
Laminins are a group of proteins that regulate cell growth, cell movement (motility), and the attachment of cells to one another (adhesion). They are also involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Laminin 332 has a particularly important role in the basement membrane that underlies the top layer of skin (the epidermis). This membrane gives strength and resiliency to the skin and creates an additional barrier between the body and its surrounding environment. Laminin 332 is a major component of fibers called anchoring filaments, which connect the two layers of the basement membrane and help hold the skin together.
Studies suggest that laminin 332 also has several other functions. This protein appears to be important for wound healing. Additionally, researchers have proposed roles for laminin 332 in the clear outer covering of the eye (the cornea) and in the development of tooth enamel.
Health Conditions Related to Genetic Changes
Junctional epidermolysis bullosa
More than 40 mutations in the LAMC2 gene have been identified in people with junctional epidermolysis bullosa (JEB). The more serious form of the disease, known as JEB generalized severe, usually results from mutations that prevent the production of functional laminin 332. Most of these mutations lead to a premature stop signal in the instructions for making the gamma subunit, which prevents the assembly of this protein. Without laminin 332, the epidermis is only weakly connected to the underlying layers of skin. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters. Infants with JEB generalized severe develop widespread blistering that causes life-threatening complications.
Other LAMC2 gene mutations cause the milder form of the disease, JEB generalized intermediate. These mutations may alter single amino acids, add or remove a small number of amino acids, or change the way the gene's instructions are processed. These changes usually lead to the production of a laminin 332 protein that retains some function. Affected individuals experience blistering, but it may be limited to the hands, feet, knees, and elbows and often improves after the newborn period.
Other Names for This Gene
- B2T
- BM600
- BM600-100kDa
- cell-scattering factor (140kDa)
- CSF
- EBR2
- EBR2A
- kalinin (105kD)
- kalinin-105kDa
- ladsin (140kDa)
- LAM5, gamma-2 subunit
- LAMB2T
- LAMC2_HUMAN
- laminin 5, gamma-2 subunit
- laminin, gamma 2
- laminin, gamma-2
- laminin, nicein, beta-2
- LAMNB2
- MGC138491
- MGC141938
- nicein (100kDa)
- nicein-100kDa
