GPC6

Glypican-6 (GPC6) is a protein-coding gene in humans that encodes glypican-6, a member of the glypican family of heparan sulfate proteoglycans. Glypicans are tethered to the cell surface by a glycosylphosphatidylinositol (GPI) anchor and carry heparan sulfate chains that interact with a range of extracellular ligands. GPC6 is expressed in multiple tissues during development, with notable expression in the brain, heart, limb buds, and craniofacial regions, suggesting roles in morphogenesis.

Glypicans regulate signaling pathways that control cell growth, differentiation, and tissue patterning. Glypican-6 is believed to modulate developmental signaling cascades such as Wnt and fibroblast growth factor (FGF) pathways, and may influence Hedgehog and BMP signaling by affecting ligand availability or receptor access at the cell surface.

In humans, rare variants and structural changes affecting GPC6 have been studied in relation to developmental disorders, particularly craniofacial and skeletal malformations. Experimental models support a role for Gpc6 in normal craniofacial and skeletal development, with disruption leading to morphogenetic abnormalities. The full spectrum of human disease associations remains to be defined, and the effects of different variants can vary.

GPC6 is part of a conserved gene family (GPC1-6) with homologs across vertebrates, sharing the characteristic GPI-anchored core protein and heparan sulfate modification. Ongoing research continues to elucidate its precise functions, interactions, and contributions to development and disease.