| Primary Identifier | MGI:97370 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 18605 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; metal ion binding activity; and phosphoric ester hydrolase activity. Involved in several processes, including cell surface receptor signaling pathway; leukocyte differentiation; and skeletal system development. Acts upstream of with a positive effect on cell morphogenesis. Acts upstream of or within with a negative effect on protein poly-ADP-ribosylation. Acts upstream of or within negative regulation of ossification. Located in cell surface; extracellular space; and plasma membrane. Is active in extracellular region. Is expressed in several structures, including central nervous system; integumental system; limb; sensory organ; and tooth. Used to study arterial calcification of infancy; bone disease (multiple); middle ear disease (multiple); and ossification of the posterior longitudinal ligament of spine. Human ortholog(s) of this gene implicated in several diseases, including arterial calcification of infancy; end stage renal disease; obesity; ossification of the posterior longitudinal ligament of spine; and type 2 diabetes mellitus. Orthologous to human ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1). PHENOTYPE: Homozygous KO causes hyperostosis (leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification) and spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation. Homozygosity for a spontaneous point mutation leads to calcification off all joints, and decreased fat mass and food intake, leading to premature death. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
