Description
By somatic cell hybrid analysis, PLD1 is mapped to 3q26.31. This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. And PLD1 disrupted association of gamma-secretase protein components, independent of PLD1catalytic activity. What's more, PLD1 regulates intracellular trafficking of beta-amyloid, distinct from its effect on gamma-secretase activity