Plasma membrane glycoprotein 1 (PC-1) elicits phosphodiesterase and pyrophosphatase activity and may play a key role in lymphocyte function. PC-1 impacts the cell signalling cascade by inhibiting insulin receptor (IR) tyrosine kinase. Polymorphism in PC1 contributes to insulin resistance in type 2 diabetes patients. Mutations in ENPP1 depletes inorganic pyrophosphate levels, leading to arterial calcification and hypophosphatemic rickets. Mutations in the ENPP1 gene is associated with skin pigmentation disorder, Cole disease.
