Primary Identifier | MGI:109629 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 54411 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATPase activator activity; small GTPase binding activity; and transporter activator activity. Involved in endosome to plasma membrane protein transport; osteoclast development; and synaptic vesicle lumen acidification. Is active in endosome membrane. Is expressed in integumental system; nervous system; sensory organ; and tail. Human ortholog(s) of this gene implicated in immunodeficiency 47. Orthologous to human ATP6AP1 (ATPase H+ transporting accessory protein 1). PHENOTYPE: A targeted mutation in this X-linked gene was made in male ES cells, but no viable chimeric mice were produced, suggesting a requirement for this gene in prenatal development. [provided by MGI curators] |