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anaemia_irondef [2026/08/07 00:43] – [decreased iron intake or malabsorption] gary1anaemia_irondef [2026/08/07 00:44] (current) – [decreased iron intake or malabsorption] gary1
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           * in mice studies, LOF mutations also result in **reduced levels of DMT1, a key iron-absorbing protein located in the intestinal epithelial cells**(([[https://www.mdpi.com/1422-0067/26/7/3356|2025: PTPN2 Regulates Iron Handling Protein Expression in Inflammatory Bowel Disease Patients and Prevents Iron Deficiency in Mice ]]))           * in mice studies, LOF mutations also result in **reduced levels of DMT1, a key iron-absorbing protein located in the intestinal epithelial cells**(([[https://www.mdpi.com/1422-0067/26/7/3356|2025: PTPN2 Regulates Iron Handling Protein Expression in Inflammatory Bowel Disease Patients and Prevents Iron Deficiency in Mice ]]))
         * found in 14-16% of the general population and 19-20% of the IBD population         * found in 14-16% of the general population and 19-20% of the IBD population
-      * loss of function of TPC1 ion channels+      * loss of function of TPC1 ion channels via mutation in TPCN1 gene
         * TCP1 activity influences both the absorption of iron from the plasma membrane and the pH value in endosomes that release iron into the cytosol based on pH value(([[https://www.pnas.org/doi/10.1073/pnas.2602941123|2026: TPC1-dependent control of endosomal pH and transferrin uptake determines cellular iron status]]))         * TCP1 activity influences both the absorption of iron from the plasma membrane and the pH value in endosomes that release iron into the cytosol based on pH value(([[https://www.pnas.org/doi/10.1073/pnas.2602941123|2026: TPC1-dependent control of endosomal pH and transferrin uptake determines cellular iron status]]))
  
anaemia_irondef.txt · Last modified: 2026/08/07 00:44 by gary1

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