Reactome | Defective mitochondrial BTD does not hydrolyse BCTN

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Defective mitochondrial BTD does not hydrolyse BCTN Show undefined attributes

authored	[InstanceEdit:3325551] Jassal, B, 2013-05-10
catalystActivity	[CatalystActivity:9631883] biotinidase activity of BTD mutants [mitochondrial matrix]
category	transition
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:4225088] Jassal, B, 2013-08-16
dbId	4225086
disease	[Disease:3325582] vitamin metabolic disorder
displayName	Defective mitochondrial BTD does not hydrolyse BCTN
edited	[InstanceEdit:3325551] Jassal, B, 2013-05-10
entityFunctionalStatus	[EntityFunctionalStatus:4225087] loss_of_function of BTD mutants [mitochondrial matrix]
eventOf	[Pathway:R-HSA-3371598] Defective BTD causes biotidinase deficiency - Homo sapiens
input	[SimpleEntity:R-ALL-3076887] BCTN [extracellular region]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:3076884] Biotinylation of biotinidase following incubation with biocytin [LiteratureReference:3076892] Human serum biotinidase. cDNA cloning, sequence, and characterization [LiteratureReference:3282866] Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency [LiteratureReference:3325549] Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency [LiteratureReference:3325547] Profound biotinidase deficiency in two asymptomatic adults [LiteratureReference:3325575] Novel mutations cause biotinidase deficiency in Turkish children [LiteratureReference:4167512] The Biotinidase Gene Variants Registry: A Paradigm Public Database [LiteratureReference:4167533] Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective mitochondrial BTD does not hydrolyse BCTN
normalReaction	[Reaction:R-HSA-4167509] Mitochondrial BTD hydrolyses BCTN
releaseDate	2013-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:4167521] Polyak, S W, 2013-08-15
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-4225086
summation	[Summation:3325573] Human biotinidase (BTD, EC 3.5.1.12) (Cole et al. 1994) cata...

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[Pathway:R-HSA-3371598] Defective BTD causes biotidinase deficiency