AlphaFold predicted structure
IDH3B · O43837
Mean pLDDT
87.8/ 100
Confident
385 residues
Confidence breakdown
- Very high(≥ 90)78%
- Confident(70–90)8%
- Low(50–70)2%
- Very low(< 50)12%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
IDH3B
Chr 20p13isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
- Aliases:
- RP46
- MANE:
- ENST00000380843.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Likely inborn error of metabolism
UnknownStructural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
retinitis pigmentosa
0.73eye disorder
0.37Posterior column ataxia - retinitis pigmentosa
0.37neurodegenerative disease
0.35ovarian neoplasm
0.24Retinal dystrophy
0.19placenta praevia
0.16optic atrophy
0.14Alzheimer disease
0.08Cone rod dystrophy
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial
Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing 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