AlphaFold predicted structure
IDH1 · O75874
Mean pLDDT
95.9/ 100
Very high
414 residues
Confidence breakdown
- Very high(≥ 90)95%
- Confident(70–90)5%
- Low(50–70)1%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
IDH1
Chr 2q34isocitrate dehydrogenase (NADP(+)) 1
- MANE:
- ENST00000345146.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLikely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMitochondrial disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenias and congenital anaemias
UnknownPeroxisomal disorders
UnknownVascular skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
acute myeloid leukemia
0.78glioblastoma
0.66cholangiocarcinoma
0.65glioma
0.64Maffucci syndrome
0.63Enchondromatosis
0.63astrocytoma (excluding glioblastoma)
0.59oligodendroglioma
0.58metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
0.55Ollier disease
0.52
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Isocitrate dehydrogenase [NADP] cytoplasmic
Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygenase (PubMed:10521434, PubMed:19935646). Plays a critical role in the generation of NADPH, an important cofactor in many biosynthesis pathways (PubMed:10521434). May act as a corneal epithelial crystallin and may be involved in maintaining corneal epithelial transparency (By similarity)
Diseases associated with IDH1
Curated MONDO disease pages that list IDH1 among their top associated genes.