Aliases:This biomarker is also known as:
- ER-localized type I transmembrane adaptor,
- ATPase, H+ transporting, lysosomal accessory protein 2,
- Renin/prorenin receptor,
- ATPase, H+ transporting, lysosomal interacting protein 2,
- Embryonic liver differentiation factor 10,
- V-ATPase M8.9 subunit,
- Renin receptor,
- Vacuolar ATP synthase membrane sector-associated protein M8-9,
ATP6AP2 functions as a renin and prorenin cellular receptor. It may mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS). ATP6AP2 is expressed in brain, heart, placenta, liver, kidney and pancreas; it is barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. It is expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. Defects in ATP6AP2 are a cause of mental retardation X-linked with epilepsy (MRXE). MRXE is a syndromic mental retardation. Patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.
|QA State:||Under Review|
There are no datasets associated with this biomarker.