| Modification Notes |
Glypican-3 (GPC3) is an integral membrane protein that is mutated in the Simpson-Golabi-Behmel syndrome (SGBS). SGBS is characterized by pre- and post-natal overgrowth and is a recessive X-linked condition. Glypican-3, also designated OCI-5 in rat, is a member of the glypican family of heparan sulfate proteoglycans, which attach to the cell membrane via a glycosyl-phosphatidyl-inositol (GPI) anchor. Expression of glypican-3 is detected in embryonic mesodermal lung, liver and kidney tissues. Glypican-3 is thought to regulate tissue and organ growth through interactions with growth factors such as insulin-like growth factor II (IGF-II) or fibroblast growth factor 2 (FGF-2). Glypican-3 may be downregulated by various means, including promoter hypermethylation or the repression of specific transcription factors. |