Query author contributions in Reactome
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Details on Person G345S HIBCH [mitochondrial matrix]
| Class:Id | EntityWithAccessionedSequence:9916919 |
|---|---|
| _displayName | G345S 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:9916909] ClinGen:CA204510 |
| disease | [Disease:9916726] 3-hydroxyisobutryl-CoA hydrolase deficiency |
| endCoordinate | 386 |
| hasModifiedResidue | [ReplacedResidue:9916921] L-serine residue 345 replaced with glycine removal |
| literatureReference | [LiteratureReference:9916899] Metabolite studies in HIBCH and ECHS1 defects: Implications for screening |
| name | G345S HIBCH 3-hydroxyisobutyryl-coenzyme A hydrolase |
| referenceEntity | [ReferenceGeneProduct:70871] UniProt:Q6NVY1 HIBCH [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9916922] R-HSA-9916919.1 |
| startCoordinate | 33 |
| (hasMember) | [DefinedSet:9916724] HIBCH mutants [mitochondrial matrix] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by G345S HIBCH [mitochondrial matrix] (9916919)
