ATP6AP2 an acronym for "ATPase H+ Transporting Accessory Protein 2" encodes a transmembrane protein that is an essential accessory component of vacuolar ATPase required for lysosomal degradative functions and autophagy. The encoded Atp6ap2 protein is a multifunctional protein that functions as a cellular renin and prorenin receptor. ATP6AP2 may control several signaling pathways important for proper brain development, synapse morphology, and synaptic transmission.
Diseases associated with ATP6AP2 include:
- Parkinsonism with spasticity, X-linked and
- Mental retardation, X-linked, syndromic, Hedera type.
- Congenital disorder of glycosylation type 2R: In 3 males from 2 unrelated families with X-linked congenital disorder of glycosylation type 2R, Rujano et al (2017) identified hemizygous missense variants in the ATP6AP2 gene.