Fig. 5: Locations of PFBC disease mutations mapped on the intracellular gate open (iO) structure of XPR1. | Nature Communications

Fig. 5: Locations of PFBC disease mutations mapped on the intracellular gate open (iO) structure of XPR1.

From: Transport and InsP8 gating mechanisms of the human inorganic phosphate exporter XPR1

Fig. 5: Locations of PFBC disease mutations mapped on the intracellular gate open (iO) structure of XPR1.The alternative text for this image may have been generated using AI.

Residues of which missense mutations are known to cause neurological disease phenotypes are represented as sticks. Nitrogen, blue; oxygen, red. The residues are clustered near protein regions critical for function, including (1) the substrate translocation pathway, (2) the Arg extension and capture pocket, and (3) the intracellular gate or C-plug.

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