| Primary Identifier | MGI:2153480 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 140494 |
| 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 and P-type proton-exporting transporter activity. Involved in synaptic vesicle lumen acidification. Acts upstream of or within proton transmembrane transport. Located in apical plasma membrane; brush border; and endosome. Part of vacuolar proton-transporting V-type ATPase complex. Is expressed in several structures, including alimentary system; genitourinary system; musculoskeletal system; respiratory system; and sensory organ. Used to study renal tubular acidosis. Human ortholog(s) of this gene implicated in renal tubular acidosis. Orthologous to human ATP6V0A4 (ATPase H+ transporting V0 subunit a4). PHENOTYPE: Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction. [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
