| 70495 |
Q9CYN9 |
RENR_MOUSE |
Renin receptor (ATPase H(+)-transporting lysosomal accessory protein 2) (ATPase H(+)-transporting lysosomal-interacting protein 2) (Renin/prorenin receptor) [Cleaved into: Renin receptor extracellular fragment; Renin receptor cytoplasmic fragment] |
DISRUPTION PHENOTYPE |
Conditional knockout mice lacking Atp6ap2 in glutamatergic neurons display increased spontaneous locomotor activity and altered fear memory; show abnormal number and morphology of synapses, presynaptic transmission and autophagy defects that lead to axonal and neuronal degeneration in the cortex and hippocampus (PubMed:26376863). Conditional knockout mice lacking Atp6ap2 in the liver display liver damage, hypoglycosylation of serum proteins and autophagy defects (PubMed:29127204, PubMed:26376863). Conditional knockout mice lacking Atp6ap2 in cortical neurons die around 4 weeks of age (PubMed:30985297). It is associated with a flattened forehead and deficits in neural cell generation and/or survival compared to controls. Mutant embryonic cortex shows reduced proliferation of progenitor neural cells with premature exit of the cell cycle, premature differentiation, and apoptosis. There is also evidence of lysosomal dysfunction, impaired protein degradation in autophagolysosomes, and dysregulation of the mTOR kinase pathway. {ECO:0000269|PubMed:26376863, ECO:0000269|PubMed:29127204, ECO:0000269|PubMed:30985297}. |