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Details on Person Y122C HIBCH [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9916918
_displayName	Y122C HIBCH [mitochondrial matrix]
_timestamp	2024-07-26 17:47:17
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9916916] Rothfels, Karen, 2024-07-26
crossReference	[DatabaseIdentifier:9916908] ClinGen:CA114798
disease	[Disease:9916726] 3-hydroxyisobutryl-CoA hydrolase deficiency
endCoordinate	386
hasModifiedResidue	[ReplacedResidue:9916915] L-tyrosine 122 replaced with L-cysteine
literatureReference	[LiteratureReference:9916892] beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations [LiteratureReference:9916885] Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
name	Y122C HIBCH 3-hydroxyisobutyryl-coenzyme A hydrolase
referenceEntity	[ReferenceGeneProduct:70871] UniProt:Q6NVY1 HIBCH [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9916925] R-HSA-9916918.1
startCoordinate	33
(hasMember)	[DefinedSet:9916724] HIBCH mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by Y122C HIBCH [mitochondrial matrix] (9916918)