Statements (38)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
gptkbp:alternativeName |
beta subunit of mitochondrial trifunctional protein
trifunctional enzyme subunit beta |
gptkbp:associatedWith |
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
mitochondrial trifunctional protein deficiency |
gptkbp:component |
mitochondrial trifunctional protein
|
gptkbp:discoveredBy |
sequence analysis
|
gptkbp:encodes |
trifunctional enzyme subunit beta
|
gptkbp:Entrez_Gene_ID |
3033
|
gptkbp:expressedIn |
gptkb:skeletal_muscle
heart liver |
gptkbp:fullName |
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
|
gptkbp:function |
beta-oxidation of long-chain fatty acids
|
gptkbp:hasBiologicalActivity |
3-ketoacyl-CoA thiolase
enoyl-CoA hydratase long-chain 3-hydroxyacyl-CoA dehydrogenase |
gptkbp:HGNC_ID |
4802
|
https://www.w3.org/2000/01/rdf-schema#label |
HADHB
|
gptkbp:length |
474 amino acids
|
gptkbp:locatedIn |
mitochondria
|
gptkbp:locatedOnChromosome |
2p23
|
gptkbp:molecularWeight |
51 kDa
|
gptkbp:mutationAssociatedWith |
gptkb:hypoglycemia
peripheral neuropathy cardiomyopathy |
gptkbp:OMIM |
143450
|
gptkbp:orthologIn |
gptkb:mouse
gptkb:zebrafish right |
gptkbp:sequence |
gptkb:NCBI
gptkb:UniProt gptkb:Ensembl |
gptkbp:symbol |
gptkb:HADHB
|
gptkbp:UniProtID |
P55084
|
gptkbp:bfsParent |
gptkb:Mitochondrial_trifunctional_protein
|
gptkbp:bfsLayer |
7
|