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Details on Person SLC26A4 does not transport I- from cytosol to extracellular region

Class:IdFailedReaction:5627870
_displayNameSLC26A4 does not transport I- from cytosol to extracellular region
_doReleaseTRUE
_timestamp2015-09-04 20:50:34
authored[InstanceEdit:5627846] Jassal, Bijay, 2014-10-23
catalystActivity[CatalystActivity:9631748] iodide transmembrane transporter activity of SLC26A4 mutants [plasma membrane]
compartment[Compartment:70101] cytosol
[Compartment:984] extracellular region
[Compartment:876] plasma membrane
created[InstanceEdit:5627846] Jassal, Bijay, 2014-10-23
disease[Disease:5627855] sensorineural hearing loss
[Disease:5627854] goiter
edited[InstanceEdit:5627846] Jassal, Bijay, 2014-10-23
entityFunctionalStatus[EntityFunctionalStatus:5627863] loss_of_function of SLC26A4 mutants [plasma membrane]
input[SimpleEntity:209785] I- [cytosol]
isChimericFALSE
literatureReference[LiteratureReference:425389] Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
[LiteratureReference:5627889] Two frequent missense mutations in Pendred syndrome
[LiteratureReference:5627890] Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
[LiteratureReference:5627869] Molecular analysis of the PDS gene in Pendred syndrome
modified[InstanceEdit:5627904] Jassal, Bijay, 2014-10-23
[InstanceEdit:6789777] Jassal, Bijay, 2015-08-04
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameSLC26A4 does not transport I- from cytosol to extracellular region
normalReaction
releaseDate2015-09-22
releaseStatusNEW
reviewed[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:6797147] R-HSA-5627870.3
summation[Summation:5627745] Solute carrier (SLC) genes that code chloride (Cl-)/bicarbon...
(hasEvent)[Pathway:5619046] Defective SLC26A4 causes Pendred syndrome (PDS) [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778079] Update Tracker - [FailedReaction:5627870] SLC26A4 does not transport I- from cytosol to extracellular region - v68:[addCatalystActivity]
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