A ubiquitous heparan sulphate proteoglycan of basement membranes where it interacts with nidogen, helps maintain structural integrity, and contributes to the ultrafiltration properties in kidney basement membrane. It also has angiogenic and growth-promoting attributes through acting as a coreceptor for basic fibroblast growth factor, bFGF. There are domains homologous to LDL receptor, laminin, neuronal cell adhesion molecule (N-CAM), and epidermal growth factor (EGF). Mutations of perlecan cause lethal chondrodysplasia and dyssegmental dysplasia, Silverman–Handmaker type; partially functional mutations of perlecan also cause Schwartz–Jampel syndrome.
Subjects: Medicine and Health.