Atpase Transporting Lysosomal Accessory Protein 2 (ATP6AP2) Human Recombinant Protein

This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]

ATP6AP2: 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). 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.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: Xp11.4

Cellular Component: neuron projection; integral to membrane; plasma membrane; external side of plasma membrane

Molecular Function: protein binding; enzyme binding; receptor activity; aspartic-type endopeptidase activity

Biological Process: rostrocaudal neural tube patterning; positive regulation of transforming growth factor-beta1 production; cellular protein metabolic process; regulation of MAPKKK cascade; angiotensin maturation; proteolysis; positive regulation of Wnt receptor signaling pathway; eye pigmentation

Disease: Mental Retardation, X-linked, Syndromic, Hedera Type; Parkinsonism With Spasticity, X-linked