Orphanet: isocitrate dehydrogenase NADP 2, mitochondrial

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IDH2 - isocitrate dehydrogenase (NADP(+)) 2, mitochondrial

Synonym(s) :
Previous symbols and names : isocitrate dehydrogenase 2 (NADP+), mitochondrial
Type : gene with protein product
Chromosomal location : 15q26.1
OMIM: 147650
HGNC: 5383
UniProtKB: P48735
Genatlas: IDH2
Ensembl: ENSG00000182054
IUPHAR-DB: -
Reactome: P48735
LOVD: IDH2

Diseases list

Disease-causing germline mutation(s) (gain of function) in D-2-hydroxyglutaric aciduria ORPHA:79315
Disease-causing somatic mutation(s) in Maffucci syndrome ORPHA:163634
Disease-causing somatic mutation(s) in Ollier disease ORPHA:296
Biomarker tested in Anaplastic astrocytoma ORPHA:251589
Biomarker tested in Anaplastic oligoastrocytoma ORPHA:251663
Biomarker tested in Anaplastic oligodendroglioma ORPHA:251630
Biomarker tested in Fibrillary astrocytoma ORPHA:251601
Biomarker tested in Gemistocytic astrocytoma ORPHA:251604
Biomarker tested in Oligoastrocytoma ORPHA:251656
Biomarker tested in Oligodendroglioma ORPHA:251627
Biomarker tested in Protoplasmic astrocytoma ORPHA:251598

: Assessed

Additional information

Health care resources for this gene

Diagnostic tests (10)

Research activities on this gene

Specialised Social Services

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