IDH3G

Chr Xq28

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

MANE:: ENST00000217901.10

OMIM: 300089 ↗NCBI: 3421 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

IDH3G · P51553

v62025-08-01

Predicted Aligned Error matrix for IDH3G — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.6/ 100

Confident

393 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

retinitis pigmentosa 99
0.51
neurodegenerative disease
0.35
Spastic tetraplegia
0.12
spastic quadriplegic cerebral palsy
0.12
sleep disorder
0.02
osteoporosis
0.02
bone fracture
0.02
glioblastoma
0.02
Parkinson disease
0.02
Alzheimer disease
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial

Regulatory subunit which plays a role in the allosteric regulation 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