| 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 9.1.0) Involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. Predicted to be located in autolysosome; nucleolus; and nucleoplasm. 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
