Perlecan (HSPG2) Antibody – Rat Monoclonal

HSPG2: Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development. Defects in HSPG2 are the cause of Schwartz-Jampel syndrome (SJS1); a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Defects in HSPG2 are the cause of dyssegmental dysplasia Silverman-Handmaker type (DDSH). The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.

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

Cellular Component: extracellular matrix; extracellular space; proteinaceous extracellular matrix; focal adhesion; extracellular region; basement membrane; basal lamina

Molecular Function: protein C-terminus binding; protein binding; protease binding; metal ion binding

Biological Process: cardiac muscle development; protein localization; extracellular matrix organization and biogenesis; chondrocyte differentiation; angiogenesis; brain development; embryonic skeletal morphogenesis; endochondral ossification