|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:associatedWith
|
isocitrate dehydrogenase (NAD) activity
retinitis pigmentosa 46
|
|
gptkbp:discoveredIn
|
1990s
|
|
gptkbp:encodes
|
isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial
|
|
gptkbp:Entrez_Gene_ID
|
3419
ENSG00000119698
|
|
gptkbp:expressedIn
|
mitochondria
|
|
gptkbp:function
|
catalyzes oxidative decarboxylation of isocitrate to alpha-ketoglutarate
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
IDH3A-201
|
|
gptkbp:HGNC_ID
|
5384
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IDH3A
|
|
gptkbp:involvedIn
|
tricarboxylic acid cycle
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
gptkb:15q25.1
|
|
gptkbp:mutationAssociatedWith
|
retinitis pigmentosa
|
|
gptkbp:numberOfExons
|
10
|
|
gptkbp:OMIM
|
601149
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Idh3a
|
|
gptkbp:orthologInYeast
|
gptkb:IDH3
|
|
gptkbp:product
|
isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial
|
|
gptkbp:proteinFamily
|
isocitrate/isopropylmalate dehydrogenase family
|
|
gptkbp:subunit
|
isocitrate dehydrogenase (NAD) complex
|
|
gptkbp:UniProtID
|
P50213
|
|
gptkbp:bfsParent
|
gptkb:isocitrate_dehydrogenase
|
|
gptkbp:bfsLayer
|
6
|