Reactome | Defective HLCS causes multiple carboxylase deficiency

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Defective HLCS causes multiple carboxylase deficiency Show undefined attributes

authored	[InstanceEdit:3359461] Jassal, B, 2013-05-13
created	[InstanceEdit:3371595] Jassal, B, 2013-05-13
dbId	3371599
disease	[Disease:3325582] vitamin metabolic disorder
displayName	Defective HLCS causes multiple carboxylase deficiency
edited	[InstanceEdit:3359461] Jassal, B, 2013-05-13
eventOf	[Pathway:R-HSA-3323169] Defects in biotin (Btn) metabolism - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-3323184] Defective HLCS does not biotinylate ACACA:Mn2+ - Homo sapiens [FailedReaction:R-HSA-9035987] Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2 - Homo sapiens [FailedReaction:R-HSA-9035988] Defective HLCS does not biotinylate PC:Mn2+ - Homo sapiens [FailedReaction:R-HSA-9035990] Defective HLCS does not biotinylate 6x(PCCA:PCCB) - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2993882] Mutations in the holocarboxylase synthetase gene HLCS [LiteratureReference:4167520] Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency [LiteratureReference:4167532] Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency [LiteratureReference:4167522] A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency [LiteratureReference:3325457] Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency [LiteratureReference:4167497] Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective HLCS causes multiple carboxylase deficiency
normalPathway	[Pathway:R-HSA-196849] Metabolism of water-soluble vitamins and cofactors
releaseDate	2013-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:4167521] Polyak, S W, 2013-08-15
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-3371599
summation	[Summation:3371596] Defects in HLCS causes holocarboxylase synthetase deficiency...

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[Pathway:R-HSA-3323169] Defects in biotin (Btn) metabolism