Reactome | Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol

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Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol Show undefined attributes

authored	[InstanceEdit:5625621] Jassal, Bijay, 2014-10-06
catalystActivity	[CatalystActivity:9631978] carnitine transmembrane transporter activity of SLC22A5 mutants [plasma membrane]
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5625621] Jassal, Bijay, 2014-10-06
crossReference	[DatabaseIdentifier:12021001] Mondo:0008919
dbId	5625674
disease	[Disease:5625675] systemic primary carnitine deficiency disease
displayName	Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol
edited	[InstanceEdit:5625621] Jassal, Bijay, 2014-10-06
entityFunctionalStatus	[EntityFunctionalStatus:5625618] loss_of_function of SLC22A5 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619053] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) - Homo sapiens
input	[SimpleEntity:R-ALL-164988] CAR [extracellular region] [SimpleEntity:R-ALL-74113] Na+ [extracellular region]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5625705] Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter [LiteratureReference:549253] Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency [LiteratureReference:5625712] Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality [LiteratureReference:5625639] A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients [LiteratureReference:5625617] Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation [LiteratureReference:5625626] Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol
normalReaction	[Reaction:R-HSA-549297] SLC22A4, 5,15,16 cotransport CAR, Na+ from extracellular region to cytosol
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-5625674
summation	[Summation:5625633] SLC22A5 encodes the organic cation/carnitine transporter 2 (...
updateTrackers	[UpdateTracker:9778221] Update Tracker - [FailedReaction:5625674] Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778221] Update Tracker - [FailedReaction:5625674] Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619053] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

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