ATP6AP2

Description

The ATP6AP2 (ATPase H+ transporting accessory protein 2) is a protein-coding gene located on chromosome X.

The renin receptor, also known as ATPase H(+)-transporting lysosomal accessory protein 2 or the prorenin receptor, is a protein encoded by the ATP6AP2 gene in humans. It binds renin and prorenin, triggering the conversion of angiotensinogen to angiotensin I. ATP6AP2 is associated with proton-translocating ATPases, which are crucial for energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. It interacts with the transmembrane sector of V-type ATPases.

ATP6AP2 is a multifunctional protein that acts as a cellular receptor for both renin and prorenin. It is also involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system. ATP6AP2 may mediate renin-dependent cellular responses by activating ERK1 and ERK2. It may also play a role in the renin-angiotensin system (RAS) by increasing the catalytic efficiency of renin in the conversion of angiotensinogen to angiotensin I. Through its function in V-type ATPase assembly and lysosomal acidification, ATP6AP2 regulates protein degradation and may control signaling pathways important for brain development, synapse morphology, and synaptic transmission.

ATP6AP2 is also known as APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS.

Associated Diseases

• Parkinsonism with spasticity, X-linked
• X-linked intellectual disability, Hedera type
• Mental retardation, X-linked, syndromic, Hedera type
• X-linked parkinsonism-spasticity syndrome
• Congenital disorder of glycosylation, type IIr