ATP13A3 encodes an ATPase that plays a role in polyamine transport to a variety of cations across the membrane. This gene has been seen to be related with definitive evidence for pulmonary arterial hypertension by several studies [Gräf et al., 2018; Barozzi et al., 2019; Lerche et al., 2019; Zhu et al., 2019; Wang et al., 2019 and Machado et al., 2021]. The mode of inheritance of ATP13A3 showed a semi-dominant pattern and the majority of the variants detected were missense, although nonsense and frameshift variants have also been detected. Functional assays confirmed that ATP13A3 is expressed in primary pulmonary arterial smooth muscle cells, endothelial cells and blood outgrowth endothelial cells from patients. ATP13A3 knockdown by siRNA in BOECs showed decreased proliferation and BOECs transfected with siRNA of ATP13A3 showed increased apoptosis [Gräf et al., 2018].
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.