Reactome | Defective SLC34A3 does not cotransport Pi, 2Na+

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Defective SLC34A3 does not cotransport Pi, 2Na+ Show undefined attributes

authored	[InstanceEdit:5651956] Jassal, Bijay, 2014-11-26
catalystActivity	[CatalystActivity:9631756] sodium:phosphate symporter activity of SLC34A3 mutants [plasma membrane]
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5651956] Jassal, Bijay, 2014-11-26
crossReference	[DatabaseIdentifier:12021011] Mondo:0010619
dbId	5651971
disease	[Disease:5651943] X-linked hypophosphatemia
displayName	Defective SLC34A3 does not cotransport Pi, 2Na+
edited	[InstanceEdit:5651956] Jassal, Bijay, 2014-11-26
entityFunctionalStatus	[EntityFunctionalStatus:5651952] loss_of_function of SLC34A3 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619097] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) - Homo sapiens
input	2 × [SimpleEntity:R-ALL-74113] Na+ [extracellular region] [SimpleEntity:R-ALL-109277] Pi [extracellular region]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5651972] A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient [LiteratureReference:5651949] Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3 [LiteratureReference:427677] SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC34A3 does not cotransport Pi, 2Na+
normalReaction	[Reaction:R-HSA-427645] SLC34A3 cotransports Pi, 2Na+
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5651971
summation	[Summation:5651945] SLC34A3 is almost exclusively expressed at the apical membra...
updateTrackers	[UpdateTracker:9778578] Update Tracker - [FailedReaction:5651971] Defective SLC34A3 does not cotransport Pi, 2Na+ - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778578] Update Tracker - [FailedReaction:5651971] Defective SLC34A3 does not cotransport Pi, 2Na+ - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619097] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

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