New Cases of Hypochromic Microcytic Anemia Due to Mutations in the <i>SLC11A2</i> Gene and Functional Characterization of the G75R Mutation

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the <i>SLC11A2</i> Gene and Functional Characterization of the G75R Mutation

Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the <i>SLC11A2</i> gene. DMT1 has a vital role in iron homeostasis by mediating iron uptake in the intestine and kidneys and by recovering iron from recycling endosomes after transferrin endocytosis. Muta...

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Bibliographic Details
Main Authors: Lídia Romero-Cortadellas, Gonzalo Hernández, Xènia Ferrer-Cortès, Laura Zalba-Jadraque, José Luis Fuster, Mar Bermúdez-Cortés, Ana María Galera-Miñarro, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Molecular Sciences
Subjects:
DMT1
microcytic anemia
iron overload
<i>SLC11A2</i>
mutation
EPO
Online Access:https://www.mdpi.com/1422-0067/23/8/4406

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https://www.mdpi.com/1422-0067/23/8/4406

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