Involvement in disease
Genetic variants in PLD3 have been suggested to be associated with an increased risk for Alzheimer disease (PubMed:24336208, PubMed:25832409). Further studies, however, did not support PLD3 involvement in this disease (PubMed:25832408, PubMed:25832411, PubMed:25832413, PubMed:25832410, PubMed:26411346).
Subcellular Location
Endoplasmic reticulum membrane; Single-pass type II membrane protein. Lysosome lumen. Early endosome membrane; Single-pass type II membrane protein. Late endosome membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II membrane protein.
Tissue Specificity
Widely expressed. In the brain, high levels of expression are detected in the frontal, temporal and occipital cortices and hippocampus. Expressed at low level in corpus callosum.
