| Primary Identifier | MGI:1923275 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 76025 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity; nucleoside diphosphate phosphatase activity; and protein homodimerization activity. Predicted to be involved in proteoglycan biosynthetic process. Predicted to act upstream of or within ribonucleoside diphosphate catabolic process. Predicted to be located in Golgi apparatus and endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and respiratory system. Used to study Desbuquois dysplasia. Human ortholog(s) of this gene implicated in Desbuquois dysplasia and multiple epiphyseal dysplasia 7. Orthologous to human CANT1 (calcium activated nucleotidase 1). PHENOTYPE: Mice homozygous for a null allele exhibit chondrodysplasia with reduced skeletal growth, a delta phalanx, growth plate and endochondral ossification defects, and glycosaminoglycan synthesis defects. [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
