Reactome | Defective GALNT3 causes HFTC

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Defective GALNT3 causes HFTC Show undefined attributes

authored	[InstanceEdit:5083634] Jassal, B, 2013-11-07
created	[InstanceEdit:5083634] Jassal, B, 2013-11-07
crossReference	[DatabaseIdentifier:12020898] Mondo:0000328
dbId	5083625
disease	[Disease:5672342] hyperphosphatemia
displayName	Defective GALNT3 causes HFTC
edited	[InstanceEdit:5083634] Jassal, B, 2013-11-07
eventOf	[Pathway:R-HSA-3906995] Diseases associated with O-glycosylation of proteins - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5096537] Defective GALNT3 does not transfer GalNAc to mucins - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5096553] A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive [LiteratureReference:5096533] A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification [LiteratureReference:5096541] Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders [LiteratureReference:976842] Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3 [LiteratureReference:8849565] Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family [LiteratureReference:977014] Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective GALNT3 causes HFTC Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
normalPathway	[Pathway:R-HSA-5173105] O-linked glycosylation
releaseDate	2016-03-23
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015-12-18
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5083625
summation	[Summation:5096556] The family of UDP GalNAc:polypeptide N acetylgalactosaminylt...
updateTrackers	[UpdateTracker:9778501] Update Tracker - [Pathway:5083625] Defective GALNT3 causes HFTC - v68:[updateContainedRLE]

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(updatedInstance)	[UpdateTracker:9778501] Update Tracker - [Pathway:5083625] Defective GALNT3 causes HFTC - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-3906995] Diseases associated with O-glycosylation of proteins

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