AlphaFold predicted structure
IDH3A · P50213
Mean pLDDT
90.7/ 100
Very high
366 residues
Confidence breakdown
- Very high(≥ 90)84%
- Confident(70–90)7%
- Low(50–70)2%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
IDH3A
Chr 15q25.1isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
- MANE:
- ENST00000299518.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
retinitis pigmentosa 90
0.79retinitis pigmentosa
0.47neurodegenerative disease
0.44Retinal dystrophy
0.38colorectal carcinoma
0.18Cone rod dystrophy
0.12Progressive cone dystrophy
0.11Familial drusen
0.11Leber congenital amaurosis
0.11achromatopsia
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial
Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers
Diseases associated with IDH3A
Curated MONDO disease pages that list IDH3A among their top associated genes.