CSPG4

Chondroitin sulfate proteoglycan 4, also known as melanoma-associated chondroitin sulfate proteoglycan (MCSP) or neuron-glial antigen 2 (NG2), is a chondroitin sulfate proteoglycan that in humans is encoded by the "CSPG4" gene.
Function.
CSPG4 plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. It represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells.
Implications in disease.
CSPG4/NG2 is also a hallmark protein of oligodendrocyte progenitor cells (OPCs) and OPC dysfunction has been implicated as a candidate pathophysiological mechanism of familial schizophrenia. A research group investigating the role of genetics in schizophrenia, reported, two rare missense mutations in "CSPG4" gene"," segregating within families ("CSPG4A131T" and "CSPG4V901G" mutations). The researchers also demonstrate that the induced pluripotent stem cells (iPSCs)-derived OPCs from "CSPG4A131T" mutation carriers exhibited abnormal post-translational processing, subcellular localization of the mutant NG2 protein, aberrant cellular morphology, and a decreased cell viability and myelination potential. "In vivo" diffusion tensor imaging of the brain of "CSPG4A131T" mutation carriers demonstrated a reduced white matter integrity compared to the unaffected sibling and matched general population controls.