Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:SDHD
gptkb:PGL1 gptkb:succinate_dehydrogenase_complex_subunit_D |
gptkbp:associatedWith |
gptkb:pheochromocytoma
paraganglioma |
gptkbp:encodes |
gptkb:succinate_dehydrogenase_complex_subunit_D
|
gptkbp:Entrez_Gene_ID |
6391
|
gptkbp:expressedIn |
mitochondria
|
gptkbp:function |
component of mitochondrial complex II
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
gptkb:HGNC:10680
|
https://www.w3.org/2000/01/rdf-schema#label |
human PGL1 (SDHD)
|
gptkbp:involvedIn |
electron transport chain
tricarboxylic acid cycle |
gptkbp:locatedOnChromosome |
gptkb:11q23.1
chromosome 11 |
gptkbp:mutationAssociatedWith |
gptkb:hereditary_paraganglioma-pheochromocytoma_syndrome
|
gptkbp:OMIM |
602690
|
gptkbp:UniProtID |
gptkb:O14521
|
gptkbp:bfsParent |
gptkb:PGL1
|
gptkbp:bfsLayer |
8
|