Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
gptkb:Leigh_syndrome
gptkb:pheochromocytoma gptkb:mitochondrial_complex_II_deficiency paraganglioma |
gptkbp:component |
gptkb:succinate_dehydrogenase_complex
|
gptkbp:encodes |
gptkb:SDHA_protein
|
gptkbp:Entrez_Gene_ID |
6389
|
gptkbp:expressedIn |
mitochondria
|
gptkbp:fullName |
gptkb:succinate_dehydrogenase_complex_flavoprotein_subunit_A
|
gptkbp:function |
catalyzes oxidation of succinate to fumarate in the citric acid cycle
|
gptkbp:HGNC_ID |
gptkb:HGNC:10680
|
https://www.w3.org/2000/01/rdf-schema#label |
SDHA gene
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_5
gptkb:5p15.33 |
gptkbp:mutationAssociatedWith |
mitochondrial respiratory chain complex II deficiency
|
gptkbp:OMIM |
600857
|
gptkbp:orthologInMouse |
gptkb:Sdhd
|
gptkbp:orthologInYeast |
SDH1
|
gptkbp:UniProtID |
gptkb:P31040
|
gptkbp:bfsParent |
gptkb:hereditary_paraganglioma-pheochromocytoma_syndromes
gptkb:succinate-coenzyme_Q_reductase |
gptkbp:bfsLayer |
7
|