| 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 9.1.0) 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 or within with a negative effect on protein poly-ADP-ribosylation. Acts upstream of or within bone remodeling and negative regulation of ossification. Located in extracellular region and membrane. Is active in cell surface and plasma membrane. 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 cardiovascular system disease (multiple); 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
