Mar 30, 2025 · HSPG2 (Heparan Sulfate Proteoglycan 2) is a Protein Coding gene. Diseases associated with HSPG2 include Schwartz-Jampel Syndrome, Type 1 and Dyssegmental …

Perlecan [5] (PLC) also known as basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) or heparan sulfate proteoglycan 2 (HSPG2), is a protein that in humans is …

More than 30 mutations in the HSPG2 gene have been found to cause Schwartz-Jampel syndrome. This rare condition is characterized by continuous muscle contraction (myotonia) …

Oct 3, 2016 · Title: Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients. Perlecan (HSPG2) promotes …

The HSPG2 gene product, perlecan is a multifunctional proteoglycan that preserves the integrity of extracellular matrices, patrols tissue borders, and controls various signaling pathways …

Jan 9, 2024 · Perlecan (HSPG2), a heparan sulfate proteoglycan similar to agrin, is key for extracellular matrix (ECM) maturation and stabilization. Although crucial for cardiac …

Mar 27, 2012 · The HSPG2 gene encodes perlecan, which binds to various basement membrane proteins, such as collagen IV and laminin-1 , and to cell surface receptors, such as beta-1 …

Jun 30, 2020 · Heparan sulfate proteoglycan 2 (HSPG2), also known as perlecan, is a large multi-domain extracellular matrix proteoglycan, which contributes to the invasion, metastasis and …

HSPG2, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached, is a large multidomain proteoglycan that …

HSPG2 - heparan sulfate proteoglycan 2 Synonym(s): PRCAN, perlecan, perlecan proteoglycan, endorepellin Previous symbol(s) and name(s): SJS1, Schwartz-Jampel syndrome 1 …