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Details on Person Defective PMM2 does not isomerise Man6P to Man1P

Class:IdFailedReaction:3781926
_displayNameDefective PMM2 does not isomerise Man6P to Man1P
_doReleaseTRUE
_timestamp2015-05-25 03:54:03
authored[InstanceEdit:3781876] Jassal, B, 2013-06-28
catalystActivity[CatalystActivity:9631724] phosphomannomutase activity of PMM2 mutants [cytosol]
compartment[Compartment:70101] cytosol
created[InstanceEdit:3781876] Jassal, B, 2013-06-28
disease[Disease:3781892] congenital disorder of glycosylation type I
edited[InstanceEdit:3781876] Jassal, B, 2013-06-28
entityFunctionalStatus[EntityFunctionalStatus:3781846] loss_of_function of PMM2 mutants [cytosol]
input[SimpleEntity:532562] Man6P [cytosol]
isChimericFALSE
literatureReference[LiteratureReference:532526] Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
[LiteratureReference:3781897] Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A
[LiteratureReference:3781845] Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli
[LiteratureReference:3781839] Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
[LiteratureReference:3781859] High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
[LiteratureReference:3781881] Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
modified[InstanceEdit:4043910] Jassal, B, 2013-07-29
[InstanceEdit:5083143] Jassal, B, 2013-11-05
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:5690643] Jassal, Bijay, 2015-04-30
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective PMM2 does not isomerise Man6P to Man1P
normalReaction
releaseDate2015-06-17
releaseStatusNEW
reviewed[InstanceEdit:5690642] Spillmann, Dorothe, 2015-04-30
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5695925] R-HSA-3781926.3
summation[Summation:3781900] Phosphomannomutase 2 (PMM2) catalyses the isomerisation of m...
(hasEvent)[Pathway:4043911] Defective PMM2 causes PMM2-CDG [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778155] Update Tracker - [FailedReaction:3781926] Defective PMM2 does not isomerise Man6P to Man1P - v68:[addCatalystActivity]
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