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.
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
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)
- Urheber
-
Jokiel, Johannes
Bermudez, Marcel
- DOI
-
10.1002/minf.202400002
- URN
-
urn:nbn:de:101:1-2501151311036.859267363673
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:27 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Jokiel, Johannes
- Bermudez, Marcel
Ähnliche Objekte (12)
Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter
Identification and characterization of a carnitine transporter in Acinetobacter baumannii
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations
Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis
Oligomeric structure of the carnitine transporter CaiT from Escherichia coli
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor β/δ
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor beta/delta
Carnitine today
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter
Identification and characterization of a carnitine transporter in Acinetobacter baumannii
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations
Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis
Oligomeric structure of the carnitine transporter CaiT from Escherichia coli
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor β/δ
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor beta/delta
Carnitine today
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter
Identification and characterization of a carnitine transporter in Acinetobacter baumannii
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations
Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis
Oligomeric structure of the carnitine transporter CaiT from Escherichia coli
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor β/δ
Carnitine transporter OCTN2 and carnitine uptake in bovine kidney cells is regulated by peroxisome proliferator-activated receptor beta/delta
Carnitine today
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease