| Primary Identifier | MGI:103285 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 110935 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables proton transmembrane transporter activity. Involved in regulation of pH and synaptic vesicle lumen acidification. Acts upstream of or within several processes, including renal sodium excretion; renal sodium ion transport; and renal water homeostasis. Located in several cellular components, including basolateral plasma membrane; lateral plasma membrane; and microvillus. Is expressed in several structures, including limb; lower jaw; metanephros; nervous system; and sensory organ. Used to study autosomal recessive nonsyndromic deafness and enlarged vestibular aqueduct. Human ortholog(s) of this gene implicated in renal tubular acidosis. Orthologous to human ATP6V1B1 (ATPase H+ transporting V1 subunit B1). PHENOTYPE: Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology are impaired. [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
