GeneID: 161

Description:
The encoded protein is a member of the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP) family, which catalyzes the hydrolysis of pyrophosphate and phosphodiester bonds in nucleotides and their derivatives. It is a type-II transmembrane glycoprotein composed of a short amino-terminal intracellular domain, a single transmembrane domain, and a large extracellular domain containing a conserved catalytic site. ENNP1 is predominantly expressed in bone and cartilage cells, with intermediate expression in other tissues, including the heart, liver, and kidney. In addition to nucleotide recycling, ENNP1 is also involved in the calcification of ligaments and joint capsules since pyrophosphate serves a vital source of phosphate for tissue mineralization. Dysregulation of ENPP1 activity associated with chondrocalcinosis, ossification of the posterior longitudinal ligament of the spine (OPLL), inflantile arterial calcification, and insulin resistance. Polymorphisms in this gene associated with severe cerebrovascular disease in individuals with sickle cell disease.

Synonyms: M6S1 , NPPS , PDNP1 , PC-1 , PCA1

Comments:
N/A

Number of entries/variants: 1

1. Goding JW, Grobben B, Slegers H, Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family., Biochim. Biophys. Acta , 1638(1), 1-19, 2003 PubMed
2. Flanagan JM, Sheehan V, Linder H, Howard TA, Wang YD, Hoppe CC, Aygun B, Adams RJ, Neale GA, Ware RE, Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia., Blood , 121(16), 3237-45, 2013 PubMed