Disease:Defects in GPC3 are the cause of Simpson-Golabi-Behmel syndrome (SGBS) [MIM:312870]; also known as Simpson dysmorphia syndrome (SDYS) . SGBS is a condition characterized by pre- and postnatal overgrowth (gigantism) with visceral and skeletal anomalies. ,Function:Cell surface proteoglycan that bears heparan sulfate. ,Function:Cell surface proteoglycan that bears heparan sulfate. 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. ,similarity:Belongs to the glypican family. ,tissue specificity:Highly expressed in lung , liver and kidney. ,
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