The enpp1 protein is an ectonucleotidase located on the plasma membrane that hydrolyzes extracellular ATP to generate AMP and inorganic pyrophosphate. It functions in craniofacial development, with exp...[+]

The enpp1 protein is an ectonucleotidase located on the plasma membrane that hydrolyzes extracellular ATP to generate AMP and inorganic pyrophosphate. It functions in craniofacial development, with expression observed in the cement gland, hatching gland, skin, eyes, otic vesicles, branchial arches, and pronephros. Its activity is involved in proper skeletal mineralization and is required for normal cranial neural crest cell migration. Expression is also detected in the ventral mesoderm and lateral plate mesoderm during early development. [-]

             autosomal recessive hypophosphatemic rickets
             ossification of the posterior longitudinal ligament of spine
             pseudoxanthoma elasticum
             type 2 diabetes mellitus
             obesity

          OBESITY
          OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
          ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
          COLE DISEASE; COLED
          HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD