Reactome | BTD C33Ffs*36 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:4225083] Jassal, B, 2013-08-16
dbId	4225081
disease	[Disease:3325582] vitamin metabolic disorder
displayName	BTD C33Ffs*36 [mitochondrial matrix]
endCoordinate	543
hasModifiedResidue	[FragmentReplacedModification:3769442] Replacement of residues 33 to 67 by FLTWLPWEPTPGRRAWLTITRLNIMWLPCMSIHPS
inDisease	true
memberOf	[DefinedSet:R-HSA-4225084] BTD mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9855648] D'Eustachio, Peter, 2023-12-06
name	BTD C33Ffs*36 Biotinidase BTD_HUMAN BTD
referenceEntity	[ReferenceGeneProduct:51002] UniProt:P43251 BTD
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-4225081
startCoordinate	42

(hasMember)

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