Statements (20)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
Pyruvate dehydrogenase (lipoamide) beta
|
gptkbp:associatedWith |
pyruvate dehydrogenase complex deficiency
|
gptkbp:encodes |
pyruvate dehydrogenase E1 beta subunit
|
gptkbp:Entrez_Gene_ID |
ENSG00000163541
|
gptkbp:expressedIn |
mitochondria
|
gptkbp:function |
catalyzes decarboxylation of pyruvate to acetyl-CoA
|
gptkbp:HGNC_ID |
8800
|
https://www.w3.org/2000/01/rdf-schema#label |
PDHB
|
gptkbp:locatedOnChromosome |
gptkb:3p21.1
|
gptkbp:mutationAssociatedWith |
lactic acidosis
|
gptkbp:OMIM |
179060
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
gptkb:Mus_musculus
|
gptkbp:pathway |
glycolysis
citric acid cycle |
gptkbp:product |
PDHB protein
|
gptkbp:UniProtID |
P11177
|
gptkbp:bfsParent |
gptkb:pyruvate_dehydrogenase
|
gptkbp:bfsLayer |
6
|