NP_001278789.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
468,830 Da
NCBI Official Full Name
basement membrane-specific heparan sulfate proteoglycan core protein isoform a
NCBI Official Synonym Full Names
heparan sulfate proteoglycan 2
NCBI Official Synonym Symbols
PLC; SJA; SJS; HSPG; SJS1; PRCAN [Similar Products]
NCBI Protein Information
basement membrane-specific heparan sulfate proteoglycan core protein; perlecan proteoglycan; endorepellin (domain V region)
UniProt Protein Name
Basement membrane-specific heparan sulfate proteoglycan core protein
UniProt Synonym Protein Names
Perlecan; PLC
UniProt Synonym Gene Names
UniProt Entry Name
PGBM_HUMAN
NCBI Summary for HSPG2
This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
UniProt Comments for HSPG2
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: Motility/polarity/chemotaxis; Cell adhesion; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1p36.1-p34
Cellular Component: extracellular matrix; extracellular space; lysosomal lumen; focal adhesion; Golgi lumen; extracellular region; plasma membrane; basal lamina
Molecular Function: protein C-terminus binding; protein binding; metal ion binding
Biological Process: cardiac muscle development; phototransduction, visible light; extracellular matrix organization and biogenesis; glycosaminoglycan metabolic process; lipoprotein metabolic process; pathogenesis; embryonic skeletal morphogenesis; chondroitin sulfate metabolic process; glycosaminoglycan biosynthetic process; extracellular matrix disassembly; glycosaminoglycan catabolic process; protein localization; carbohydrate metabolic process; chondrocyte differentiation; angiogenesis; brain development; retinoid metabolic process; endochondral ossification
Disease: Schwartz-jampel Syndrome, Type 1; Dyssegmental Dysplasia, Silverman-handmaker Type
Research Articles on HSPG2
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Pathways associated with HSPG2 elisa kit
Diseases associated with HSPG2 elisa kit
Organs/Tissues associated with HSPG2 elisa kit
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