Basement membrane-specific heparan sulfate proteoglycan core protein

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.

Endorepellin

Anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6.

LG3 peptide

Has anti-angiogenic properties that require binding of calcium ions for full activity.

Schwartz-Jampel syndrome

SJS1

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further processed to produce the LG3 peptide.

O-glycosylated with core 1 or possibly core 8 glycans. Contains three heparan sulfate chains. Also contains chondroitin sulfate.

Detected in cerebrospinal fluid, fibroblasts and urine (at protein level).

• Secreted
• Extracellular space
• Extracellular matrix
• Basement membrane
• Secreted

Basement membrane-specific heparan sulfate proteoglycan core protein, HSPG, Perlecan, PLC, HSPG2

• entrezGene:3339
• omim:142461
• swissprot:P98160

Proteins

Metabolism

468830Da