Reactome | SLC25A15 variants [mitochondrial inner membrane]

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SLC25A15 variants [mitochondrial inner membrane] Show undefined attributes

catalystActivities	[CatalystActivity:9956507] L-ornithine transmembrane transporter activity of SLC25A15 variants [mitochondrial inner membrane]
compartment	[Compartment:70616] mitochondrial inner membrane
created	[InstanceEdit:9956497] Rothfels, Karen, 2025-06-12
crossReference	[DatabaseIdentifier:12020909] Mondo:0009393
dbId	9956499
disease	[Disease:9956498] ornithine translocase deficiency
displayName	SLC25A15 variants [mitochondrial inner membrane]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9959768] SLC25A15 T32R [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959765] SLC25A15 G113C [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959763] SLC25A15 G190D [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959762] SLC25A15 T272L [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959773] SLC25A15 M273K [mitochondrial inner membrane] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9959764] SLC25A15 A15V [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959769] SLC25A15 G27R [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959761] SLC25A15 M37R [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959771] SLC25A15 L71Q [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959766] SLC25A15 R179* [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959772] SLC25A15 E180K [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959760] SLC25A15 F188del [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959770] SLC25A15 R275Q [mitochondrial inner membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959759] SLC25A15 L283F [mitochondrial inner membrane] - Homo sapiens
inDisease	true
maxDepth	2
modified	[InstanceEdit:9959788] Rothfels, Karen, 2025-07-01
name	SLC25A15 variants
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9956499

Referrals

(diseaseEntity)	[EntityFunctionalStatus:9956518] loss_of_function of SLC25A15 variants [mitochondrial inner membrane]
(physicalEntity)	[CatalystActivity:9956507] L-ornithine transmembrane transporter activity of SLC25A15 variants [mitochondrial inner membrane]

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