{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["39(1)"],"submitter":["Sun H"],"pubmed_abstract":["PiT2 is an inorganic phosphate (Pi) transporter whose mutations are linked to primary familial brain calcification (PFBC). PiT2 mainly consists of two ProDom (PD) domains and a large intracellular loop region (loop7). The PD domains are crucial for the Pi transport, but the role of PiT2-loop7 remains unclear. In PFBC patients, mutations in PiT2-loop7 are mainly nonsense or frameshift mutations that probably cause PFBC due to C-PD1131 deletion. To date, six missense mutations have been identified in PiT2-loop7; however, the mechanisms by which these mutations cause PFBC are poorly understood. Here, we found that the p.T390A and p.S434W mutations in PiT2-loop7 decreased the Pi transport activity and cell surface levels of PiT2. Furthermore, we showed that these two mutations attenuated its m"],"journal":["Neuroscience bulletin"],"pagination":["57-68"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9849530"],"repository":["biostudies-literature"],"pubmed_title":["Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis."],"pmcid":["PMC9849530"],"pubmed_authors":["Luo J","Liu M","Cui J","Xiong B","Liu JY","Sun H","Xu X","Ma T","Zhu S"],"additional_accession":[]},"is_claimable":false,"name":"Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.","description":"PiT2 is an inorganic phosphate (Pi) transporter whose mutations are linked to primary familial brain calcification (PFBC). PiT2 mainly consists of two ProDom (PD) domains and a large intracellular loop region (loop7). The PD domains are crucial for the Pi transport, but the role of PiT2-loop7 remains unclear. In PFBC patients, mutations in PiT2-loop7 are mainly nonsense or frameshift mutations that probably cause PFBC due to C-PD1131 deletion. To date, six missense mutations have been identified in PiT2-loop7; however, the mechanisms by which these mutations cause PFBC are poorly understood. Here, we found that the p.T390A and p.S434W mutations in PiT2-loop7 decreased the Pi transport activity and cell surface levels of PiT2. Furthermore, we showed that these two mutations attenuated its m","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-05-29T02:13:24.733Z","creation":"2025-04-04T10:30:04.839Z"},"accession":"S-EPMC9849530","cross_references":{"pubmed":["35713844"],"doi":["10.1007/s12264-022-00893-y"]}}