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Defective HYAL1 does not hydrolyse (HA)50 Show undefined attributes

authored

[InstanceEdit:2318591] Jassal, B, 2012年06月14日

catalystActivity

[CatalystActivity:9631888] hyalurononglucosaminidase activity of HYAL1 mutants [lysosomal lumen]

category transition

compartment

[Compartment:161320] lysosomal lumen

created [InstanceEdit:2318591] Jassal, B, 2012年06月14日

crossReference

[DatabaseIdentifier:11945072] Mondo:0019249

dbId 9036077

disease

[Disease:2226052] mucopolysaccharidosis

displayName Defective HYAL1 does not hydrolyse (HA)50

edited

[InstanceEdit:2318591] Jassal, B, 2012年06月14日

entityFunctionalStatus

[EntityFunctionalStatus:2318590] loss_of_function of HYAL1 mutants [lysosomal lumen]

eventOf

[Pathway:R-HSA-2206280] MPS IX - Natowicz syndrome (Hyaluronan metabolism) - Homo sapiens

input

isChimeric false

isInDisease true

isInferred false

literatureReference

[LiteratureReference:2318602] Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

maxDepth 1

modified [InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日

name

Defective HYAL1 does not hydrolyse (HA)50

normalReaction [BlackBoxEvent:R-HSA-2160874] HYAL1 hydrolyses (HA)50

releaseDate 2012年09月18日

reviewStatus [ReviewStatus:9821382] five stars

reviewed

schemaClass FailedReaction

species

[Species:48887] Homo sapiens

stId R-HSA-9036077

summation

[Summation:9036078] In the acidic environment of the lysosome, hyaluronidase 1 (...

updateTrackers

Referrals

(updatedInstance)

(hasEvent)

[Pathway:R-HSA-2206280] MPS IX - Natowicz syndrome (Hyaluronan metabolism)

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