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. 2023 Oct 11;14:1224318. doi: 10.3389/fendo.2023.1224318

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Copyright © 2023 Pihlström, Richardt, Määttä, Pekkinen, Olkkonen, Mäkitie and Mäkitie

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pathogenic variants of SMS2. (A) Predicted membrane topology of SMS2 indicating active site residues and positions of 3 residues substituted in pathogenic SMS2 variants (p.Arg50*, Ile62Ser, Met64Arg). (B) SMS2 sequence alignment of the region immediately upstream of transmembrane domain 1 (TMD1) in human, mouse, and zebrafish. Pathogenic SMS2 variants and the ER export defected by Ile62Ser- and Met64Arg-variations are indicated. Database accession numbers for the sequences are human SMS2, Q8NHU3; mouse SMS2, Q9D4B1; zebrafish SMS2a, B8A5Q0; zebrafish SMS2b, Q6DEI3. Adapted and reprinted by permission from JCI Insight (Creative Commons Attribution 4.0 International License (CC BY 4.0)) (Pekkinen et al., (4), copyright 2019).