Reactome | N158D ACAT1(35-427) [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9915349] ACAT1 mutants [mitochondrial matrix] - Homo sapiens
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9915334] Rothfels, Karen, 2024-07-04
crossReference	[DatabaseIdentifier:12020928] Mondo:0008760 [DatabaseIdentifier:9915340] ClinGen:CA220226
dbId	9915332
disease	[Disease:9915327] beta-ketothiolase deficiency
displayName	N158D ACAT1(35-427) [mitochondrial matrix]
endCoordinate	427
hasModifiedResidue	[ReplacedResidue:9915338] L-asparagine 158 replaced with L-aspartic acid
inDisease	true
literatureReference	[LiteratureReference:9915301] Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients
maxDepth	1
name	N158D ACAT1(35-427) acetyl-CoA acetyltransferase Acetyl-CoA acetyltransferase, mitochondrial Acetoacetyl-CoA thiolase ACAT1
referenceEntity	[ReferenceGeneProduct:uniprot:P24752] UniProt:P24752 ACAT1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9915332
startCoordinate	35

(hasCandidate)

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