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Details on Person Defective SLC11A2 does not cotransport Fe2+, H+ from extracellular region to cytosol

Class:Id	FailedReaction:5623558
_displayName	Defective SLC11A2 does not cotransport Fe2+, H+ from extracellular region to cytosol
_doRelease	TRUE
_timestamp	2015-09-04 20:50:19
authored	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
catalystActivity	[CatalystActivity:9631722] iron ion transmembrane transporter activity of SLC11A2 mutants [plasma membrane]
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
disease	[Disease:5623576] hypochromic microcytic anemia
edited	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
entityFunctionalStatus	[EntityFunctionalStatus:5623709] loss_of_function of SLC11A2 mutants [plasma membrane]
input	[SimpleEntity:435347] Fe2+ [extracellular region] [SimpleEntity:351626] H+ [extracellular region]
isChimeric	FALSE
literatureReference	[LiteratureReference:5623743] Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload [LiteratureReference:5623682] Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2) [LiteratureReference:5623687] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload
modified	[InstanceEdit:5623756] Jassal, Bijay, 2014-09-19 [InstanceEdit:6789777] Jassal, Bijay, 2015-08-04 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC11A2 does not cotransport Fe2+, H+ from extracellular region to cytosol
normalReaction	[Reaction:435349] SLC11A2 cotransports Fe2+, H+ from extracellular region to cytosol [Homo sapiens]
releaseDate	2015-09-22
releaseStatus	NEW
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:6797130] R-HSA-5623558.3
summation	[Summation:5623765] The primary site for absorption of dietary iron is the duode...
(hasEvent)	[Pathway:5619048] Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778087] Update Tracker - [FailedReaction:5623558] Defective SLC11A2 does not cotransport Fe2+, H+ from extracellular region to cytosol - v68:[addCatalystActivity]
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