GPC3 ELISA Kit for Mouse

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GPC3: Cell surface proteoglycan that bears heparan sulfate. Inhibits the dipeptidyl peptidase activity of DPP4. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs. May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May regulate growth and tumor predisposition. Defects in GPC3 are the cause of Simpson-Golabi-Behmel syndrome type 1 (SGBS1); also known as Simpson dysmorphia syndrome (SDYS). SGBS is a condition characterized by pre- and postnatal overgrowth (gigantism) with visceral and skeletal anomalies. Belongs to the glypican family.

Protein type: Motility/polarity/chemotaxis; Membrane protein, GPI anchor

Chromosomal Location of Human Ortholog: Xq26.1

Cellular Component: lysosomal lumen; proteinaceous extracellular matrix; extracellular space; anchored to plasma membrane; integral to plasma membrane; Golgi lumen; plasma membrane

Molecular Function: heparan sulfate proteoglycan binding; protein binding

Biological Process: phototransduction, visible light; anatomical structure morphogenesis; glycosaminoglycan metabolic process; negative regulation of peptidase activity; positive regulation of endocytosis; pathogenesis; osteoclast differentiation; embryonic hindlimb morphogenesis; bone mineralization; body morphogenesis; chondroitin sulfate metabolic process; glycosaminoglycan biosynthetic process; positive regulation of glucose import; glycosaminoglycan catabolic process; ureteric bud branching; negative regulation of smoothened signaling pathway; carbohydrate metabolic process; positive regulation of protein catabolic process; positive regulation of smoothened signaling pathway; retinoid metabolic process; positive regulation of BMP signaling pathway; anterior/posterior axis specification; negative regulation of growth; lung development; negative regulation of epithelial cell proliferation

Disease: Simpson-golabi-behmel Syndrome, Type 1; Wilms Tumor 1