Add 200 µl of deionized water to prepare a working stock solution of 0.5 mg/ml and let the lyophilized pellet dissolve completely. Aliquot
reconstituted protein to avoid repeated freezing/thawing cycles and store at -80°C for long term storage.
Product is not sterile! Please filter the product by an appropriate sterile filter before using it in the cell culture.
ATPase H(+)-transporting lysosomal accessory protein 2
ATPase H(+)-transporting lysosomal-interacting protein 2
ATPase H+ transporting lysosomal accessory protein 2
ATPase H+ transporting lysosomal interacting protein 2
Vacuolar ATP synthase membrane sector associated protein M8 9
Vacuolar ATP synthase membrane sector-associated protein M8-9
vacuolar proton ATP synthase membrane sector associated protein M8 9
Functions as a renin and prorenin cellular receptor. 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).
Expressed in brain, heart, placenta, liver, kidney and pancreas. 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. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta.
Involvement in disease
Defects in ATP6AP2 are a cause of mental retardation X-linked with epilepsy (MRXE) [MIM:300423]. 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.