GPC3

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GPC3

A gene on chromosome Xq26.1 that encodes glypican 3, a cell surface proteoglycan with heparan sulfate that inhibits the dipeptidyl peptidase activity of DPP4. It may be involved in modulating growth of mesodermal tissues, in IGF2-receptor interactions, and in cellular growth and tumourigenesis.

Molecular Pathology
Defects in GPC3 cause Simpson-Golabi-Behmel syndrome.
References in periodicals archive ?
The diagnosis of SGBS is not easy to make, and there is considerable overlap with the other overgrowth syndromes.
Both probands in this study were diagnosed with SGBS in early childhood.
In a recent review of 63 boys with SGBS and a confirmed GPC3 mutation, only three had developed a Wilms tumour; [2] in this context, proband B represents the fourth published case.
All mutations associated with SGBS either remove a start codon or introduce a premature stop codon.
Although the specific mutation found in proband B has not previously been reported, its effect appears to be similar to other mutations associated with SGBS.
In any future pregnancy, a male fetus will have a 50% chance of being affected with SGBS and a female fetus will have a 50% chance of being a carrier of this mutation.
Nevertheless, based on his history and clinical features we believe that SGBS remains the most likely diagnosis.
As the year drew to a close, SGBS organized a Thursday afternoon stroke play tournament that attracted 40 players.
As well as promoting awareness and development of the sport SGBS is keen to play its part in the enforcement of golf rules and etiquette, Masoud said.
Along with Masoud two other officials namely Fahad Almansour, captain, and Fady Le Jreij, media and PR manager, attended the SGBS inaugural tournament.
Among the aims of SGBS, Masoud said they hope to discover talent from the grassroots level under the Rising Star program.
SGBS enjoys the support of DGCC, golf course owner and Saudi Golf Federation President Khaled Abunayyan and DGCC Golf Manager Bouchaib El Jadiani without whose backing the SBGS idea would not have been a reality, said Masoud.