Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:pyruvate_dehydrogenase_deficiency
|
| gptkbp:cofactor |
magnesium ion
thiamine pyrophosphate |
| gptkbp:component |
gptkb:pyruvate_dehydrogenase_complex
|
| gptkbp:EC_number |
1.2.4.1
|
| gptkbp:encodedBy |
PDHA1 gene
|
| gptkbp:fullName |
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
|
| gptkbp:function |
catalyzes decarboxylation of pyruvate to acetyl-CoA
|
| gptkbp:gene |
gptkb:PDHA1
|
| https://www.w3.org/2000/01/rdf-schema#label |
PDH alpha 1
|
| gptkbp:locatedIn |
mitochondrion
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
|
| gptkbp:molecularWeight |
43 kDa
|
| gptkbp:mutationAssociatedWith |
neurological disorders
lactic acidosis |
| gptkbp:OMIM |
300502
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:subunit |
E1 component of pyruvate dehydrogenase complex
|
| gptkbp:UniProtID |
gptkb:P08559
|
| gptkbp:bfsParent |
gptkb:PDHA1
|
| gptkbp:bfsLayer |
7
|