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Details on Person aceruloplasminemia

Class:Id	Disease:5623594
_displayName	aceruloplasminemia
_timestamp	2014-09-17 15:39:57
created	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
definition	An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
identifier	0050711
name	aceruloplasminemia
referenceDatabase	[ReferenceDatabase:1247631] DOID
(disease)	[Pathway:5619060] Defective CP causes aceruloplasminemia (ACERULOP) [Homo sapiens] [FailedReaction:5621402] Defective CP does not oxidise Fe2+ to Fe3+ [Homo sapiens] [EntityWithAccessionedSequence:5621429] CP D411Tfs36 [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:5621435] CP E797Rfs12 [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:5621437] CP 778fs12 [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:5621461] CP W858 [extracellular region] [Homo sapiens] [DefinedSet:5621474] CP mutants [extracellular region] [Homo sapiens] [Complex:9631864] CP mutants:6xCu2+:SLC40A1 [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by aceruloplasminemia (5623594)