| Primary Identifier | MGI:3045421 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 11732 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables inorganic diphosphate transmembrane transporter activity. Involved in several processes, including cementum mineralization; diphosphate metabolic process; and inhibition of non-skeletal tissue mineralization. Located in plasma membrane. Is active in extracellular region. Is expressed in several structures, including bone; connective tissue; olfactory epithelium; telencephalon; and vibrissa follicle. Used to study craniometaphyseal dysplasia. Human ortholog(s) of this gene implicated in autosomal dominant craniometaphyseal dysplasia and chondrocalcinosis. Orthologous to human ANKH (ANKH inorganic pyrophosphate transport regulator). PHENOTYPE: Homozygous mutant animals exhibit joint stiffness due to increased calcium deposits in calcified cartilages and die prematurely. Hyperostosis of craniofacial bones and the mandible has been reported in other mutants as well. [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
