ATP8A2


Description

The ATP8A2 (ATPase phospholipid transporting 8A2) is a protein-coding gene located on chromosome 13.

ATP8A2 is the catalytic subunit of a P4-ATPase flippase complex that transports aminophospholipids from the outer to the inner leaflet of various membranes, maintaining phospholipid asymmetry. Specifically, it can translocate phosphatidylserine but not phosphatidylcholine. The translocation process is not coupled to the countertransport of inorganic ions or other charged substrates. This complex may also play a role in vesicle formation, uptake of lipid signaling molecules, and neurite outgrowth. It is involved in maintaining phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes, potentially participating in vesicle trafficking within neuronal cells. ATP8A2 is crucial for normal visual and auditory function, contributing to the survival of photoreceptor and inner ear spiral ganglion cells.

ATP8A2 is also known as ATP, ATPIB, CAMRQ4, IB, ML-1.

Associated Diseases


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