LAMA3 Antibody – Goat Polyclonal

The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]

LAMA3: 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. Defects in LAMA3 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB); also known as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement membrane. H-JEB is a severe, infantile and lethal form. Death occurs usually within the first six months of life. Occasionally, children survive to teens. H-JEB is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. Defects in LAMA3 are the cause of laryngoonychocutaneous syndrome (LOCS). LOCS is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Motility/polarity/chemotaxis; Secreted

Chromosomal Location of Human Ortholog: 18q11.2

Cellular Component: basement membrane; extracellular region; laminin-5 complex

Molecular Function: receptor binding; structural molecule activity

Biological Process: cell adhesion; epidermis development; extracellular matrix disassembly; extracellular matrix organization and biogenesis; hemidesmosome assembly; regulation of cell adhesion; regulation of cell migration; regulation of embryonic development

Disease: Epidermolysis Bullosa, Junctional, Herlitz Type; Epidermolysis Bullosa, Junctional, Non-herlitz Type; Laryngoonychocutaneous Syndrome