Structural and Dynamic Assessment of Disease‐Causing Mutations for the Carnitine Transporter OCTN2
Abstract: Primary carnitine deficiency (PCD) is a rare autosomal recessive genetic disorder caused by missense mutations in the SLC22A5 gene encoding the organic carnitine transporter novel type 2 (OCTN2). This study investigates the structural consequences of PCD‐causing mutations, focusing on the N32S variant. Using an alpha‐fold model, molecular dynamics simulations reveal altered interactions and dynamics suggesting potential mechanistic changes in carnitine transport. In addition, we identify mutation hotspots (R169, E452) across the SLC family with the major facilitator superfamily (MFS) fold. Our data demonstrates the applicability of structural modeling for linking genetic information and clinical observations and providing a rationale for the influence of disease‐causing mutations on protein dynamics.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Structural and Dynamic Assessment of Disease‐Causing Mutations for the Carnitine Transporter OCTN2 ; volume:44 ; number:1 ; year:2025 ; extent:7
Molecular informatics ; 44, Heft 1 (2025) (gesamt 7)
- Creator
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Jokiel, Johannes
Bermudez, Marcel
- DOI
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10.1002/minf.202400002
- URN
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urn:nbn:de:101:1-2501151311036.859267363673
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:27 AM CEST
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Associated
- Jokiel, Johannes
- Bermudez, Marcel
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