HADHB

GPTKB entity

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