HSPG2

HSPG2 encodes heparan sulfate proteoglycan 2 (perlecan), a key component of basement membranes and the extracellular matrix (ECM). Common aliases include basement membrane-specific HSPG core protein. Its multi-domain core protein and attached heparan sulfate chains interact with structural ECM proteins (collagen IV, laminin) and signaling molecules (FGFs, VEGF), regulating cell adhesion, proliferation, and tissue homeostasis.
Mutations in HSPG2 cause Schwartz-Jampel syndrome type 1, a neuromuscular disorder characterized by myotonia and skeletal abnormalities. It also promotes cancer progression via angiogenesis and metastasis. Preclinical studies explore heparan sulfate mimetics to block perlecan-mediated growth factor signaling for anti-cancer therapy; gene editing for Schwartz-Jampel syndrome is in early stages, with no approved HSPG2-targeted drugs currently available.