| Primary Identifier | MGI:2443207 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 353047 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metal ion binding activity. Involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. Predicted to be located in autolysosome and nucleolus. Is expressed in lens epithelium and lens fiber. Used to study autosomal recessive osteopetrosis 6. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 6 and osteopetrosis. Orthologous to human PLEKHM1 (pleckstrin homology and RUN domain containing M1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased trabecular bone mass and decreased bone resorption capacity of osteoclasts caused by defects in the peripheral positioning and secretion of lysosomes. Mice homozygous for a gene trap insertion do not exhibit any detectable phenotype. [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
