|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PDHAD
gptkb:PDHAL
gptkb:PDHE1-A
gptkb:PDH_alpha_1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:pyruvate_dehydrogenase_E1-alpha_deficiency
lactic acidosis
|
|
gptkbp:component
|
gptkb:pyruvate_dehydrogenase_complex
|
|
gptkbp:discoveredIn
|
1988
|
|
gptkbp:encodes
|
gptkb:pyruvate_dehydrogenase_E1_component_subunit_alpha,_somatic_form,_mitochondrial
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000183010
5160
|
|
gptkbp:expressedIn
|
mitochondria
|
|
gptkbp:function
|
catalyzes the decarboxylation of pyruvate to acetyl-CoA
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
8808
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PDHA1
|
|
gptkbp:length
|
390 amino acids
17,000 bp
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xp22.12
X
|
|
gptkbp:mutationAssociatedWith
|
gptkb:X-linked_pyruvate_dehydrogenase_deficiency
|
|
gptkbp:numberOfExons
|
11
|
|
gptkbp:OMIM
|
300502
|
|
gptkbp:orthologInMouse
|
gptkb:Pdha1
|
|
gptkbp:pathway
|
gptkb:pyruvate_metabolism
glycolysis
citric acid cycle
|
|
gptkbp:UniProtID
|
gptkb:P08559
|
|
gptkbp:bfsParent
|
gptkb:pyruvate_dehydrogenase
|
|
gptkbp:bfsLayer
|
6
|