| Primary Identifier | MGI:1917745 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 70495 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable signaling receptor activity. Involved in central nervous system maturation; positive regulation of Wnt signaling pathway; and synaptic vesicle lumen acidification. Located in endosome membrane and lysosomal membrane. Is expressed in extraembryonic component; forebrain; intestine; neural retina; and renal cortex. Human ortholog(s) of this gene implicated in X-linked parkinsonism-spasticity syndrome; congenital disorder of glycosylation type II; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ATP6AP2 (ATPase H+ transporting accessory protein 2). PHENOTYPE: Mice homozygous for a conditional allele activated in podocytes exhibit impaired autophagy, podocyte effacement and signs of nephrotic syndrome. Hemizygous knockout of the soluble fragment peptide affects kidneys and cardiovascular system and leads to reduced weight and lower blood pressure. [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
