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Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it could be involved in Alzheimer disease. Ectopic expression in neural cells reduces the secretion of amyloid-beta APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it might affect the role of a small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity).
|Sequence:||3; NC_000003.12 (50674927..51384198)|
In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells, while in Alzheimer disease brains, it is associated with neurofibrillary tangles.