Reactome | Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)

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Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) Show undefined attributes

authored	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
created	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
crossReference	[DatabaseIdentifier:12819515] BioModels Database:BIOMD0000000054 [DatabaseIdentifier:12021007] Mondo:0000508
dbId	5619092
disease	[Disease:5661080] syndromic intellectual disability
displayName	Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
edited	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
eventOf	[Pathway:R-HSA-5619102] SLC transporter disorders - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5661039] Defective SLC9A6 does not exchange Na+ for H+ across the early endosome membrane - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5661028] An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease [LiteratureReference:5661048] SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome [LiteratureReference:5661011] Natural history of Christianson syndrome
maxDepth	2
modified	[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name	Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
normalPathway	[Pathway:R-HSA-425410] Metal ion SLC transporters
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5619092
summation	[Summation:5661025] SLC9A6 encodes the sodium/hydrogen exchanger 6 NHE6, a prote...
updateTrackers	[UpdateTracker:9778591] Update Tracker - [Pathway:5619092] Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) - v68:[updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9778591] Update Tracker - [Pathway:5619092] Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5619102] SLC transporter disorders

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