| Primary Identifier | MGI:1919232 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 71982 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 1-phosphatidylinositol binding activity; ATPase binding activity; and phosphatidylinositol phosphate binding activity. Involved in osteoclast differentiation. Acts upstream of or within several processes, including bone mineralization involved in bone maturation; bone resorption; and cellular response to leukemia inhibitory factor. Located in several cellular components, including apical cytoplasm; endoplasmic reticulum; and secretory granule. Is expressed in chondrocranium; incisor; limb; and nose. Used to study autosomal recessive osteopetrosis 8. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 8. Orthologous to human SNX10 (sorting nexin 10). PHENOTYPE: Mice homozygous for a hypomorphic allele show postnatal growth retardation, failure of tooth eruption, impaired skeleton development, and osteopetrorickets associated with failed osteoclast activity, high stomach pH, low calcium availability, impaired bone mineralization, and 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
