CANT1 protein is encoded by a gene that belongs to the apyrase family. This protein localizes in the endoplasmic reticulum membrane and within the Golgi apparatus. It functions as a calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. It has a very low activity towards ADP and even lower activity towards ATP, but it does not hydrolyze AMP and GMP. This enzyme is also involved in proteoglycan synthesis. Defects in this enzyme are the cause of are Desbuquois dysplasia, a rare condition of an autosomal recessive inheritance, characterized by antenatal and postnatal growth restriction, distinct hand and proximal femur appearance, advanced carpal ossification in addition to cognitive impairment. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies.