| Primary Identifier | MGI:1350931 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 27060 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase binding activity. Acts upstream of or within several processes, including T cell activation; odontogenesis; and regulation of pH. Located in several cellular components, including cytoplasmic vesicle; lysosome; and nucleus. Is expressed in several structures, including ciliary body; future brain; hemolymphoid system gland; metanephros; and optic choroid plus pigmented retinal epithelium. Used to study autosomal recessive osteopetrosis 1 and clubfoot. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 1. Orthologous to human TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3). PHENOTYPE: Homozygotes for mutant alleles exhibit severe osteopetrosis with increased bone density due to failure of secondary bone resorption. Mutants lack teeth and die around 30-40 days of age. [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
