Reactome | SLC25A15 G190D [mitochondrial inner membrane]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9956499] SLC25A15 variants [mitochondrial inner membrane] - Homo sapiens
compartment	[Compartment:70616] mitochondrial inner membrane
created	[InstanceEdit:9959767] Rothfels, Karen, 2025-07-01
crossReference	[DatabaseIdentifier:12020909] Mondo:0009393 [DatabaseIdentifier:9959743] ClinGen:CA343042
dbId	9959763
disease	[Disease:9956498] ornithine translocase deficiency
displayName	SLC25A15 G190D [mitochondrial inner membrane]
endCoordinate	301
hasModifiedResidue	[ReplacedResidue:9959681] glycine 190 replaced with L-aspartic acid
inDisease	true
literatureReference	[LiteratureReference:9959698] Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [LiteratureReference:9959731] Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome [LiteratureReference:374019] The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
maxDepth	1
name	SLC25A15 G190D Mitochondrial ornithine transporter 1 Solute carrier family 25, member 15
referenceEntity	[ReferenceGeneProduct:uniprot:Q9Y619] UniProt:Q9Y619 SLC25A15
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9959763
startCoordinate	1

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