|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:PGL1
gptkb:SDH4
succinate dehydrogenase subunit D
|
|
gptkbp:associatedWith
|
gptkb:pheochromocytoma
gptkb:hereditary_paraganglioma-pheochromocytoma_syndrome
paraganglioma
|
|
gptkbp:clinicalTrialPhase
|
available for hereditary paraganglioma syndromes
|
|
gptkbp:discoveredIn
|
2000
|
|
gptkbp:encodes
|
gptkb:succinate_dehydrogenase_cytochrome_b560_subunit
|
|
gptkbp:Entrez_Gene_ID
|
6391
|
|
gptkbp:expressedIn
|
mitochondria
|
|
gptkbp:fullName
|
gptkb:succinate_dehydrogenase_complex_subunit_D
|
|
gptkbp:function
|
component of mitochondrial complex II
involved in electron transport chain
involved in tricarboxylic acid cycle
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:10680
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SDHD gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
159 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:11q23.1
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
increased risk of tumors
|
|
gptkbp:OMIM
|
602690
|
|
gptkbp:orthologInMouse
|
gptkb:Sdhd
|
|
gptkbp:pathway
|
metabolic pathways
oxidative phosphorylation
|
|
gptkbp:proteinFamily
|
succinate dehydrogenase family
|
|
gptkbp:proteinMass
|
17.6 kDa
|
|
gptkbp:UniProtID
|
gptkb:O14521
|
|
gptkbp:bfsParent
|
gptkb:hereditary_paraganglioma-pheochromocytoma_syndromes
gptkb:succinate-coenzyme_Q_reductase
|
|
gptkbp:bfsLayer
|
7
|