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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IDH3G
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
Chromosome X · Xq28
NCBI Gene: 3421Ensembl: ENSG00000067829.21HGNC: HGNC:5386UniProt: O15384
63PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion bindingprotein bindingtricarboxylic acid cyclemitochondrionneurodegenerative diseaseSpastic tetraplegiaspastic quadriplegic cerebral palsyneuronal ceroid lipofuscinosis 1
✦AI Summary

IDH3G encodes the gamma subunit of mitochondrial isocitrate dehydrogenase (IDH3), a non-catalytic regulatory subunit of the tricarboxylic acid (TCA) cycle enzyme complex. As a regulatory component, IDH3G plays a role in allosteric regulation of isocitrate decarboxylation to alpha-ketoglutarate; the heterotetramer containing IDH3A, IDH3B, and IDH3G subunits requires cooperative function of all components for full enzymatic activity 1. IDH3G is expressed in photoreceptor inner segments and is involved in mitochondrial oxidative metabolism and carbohydrate metabolism 1. IDH3G function is regulated transcriptionally through PGC-1α-mediated mechanisms involving estrogen-related receptor and GA-binding protein-a, which control TCA cycle gene expression in cardiac tissue 2. Lactate-induced histone lactylation upregulates IDH3G expression in lung cancer cells, linking metabolic reprogramming to gene expression 3. Clinically, variants in IDH3G cause X-linked retinitis pigmentosa 99 (RP34), with disease severity typically intermediate and pathogenicity attributed to partial loss of enzymatic activity and mitochondrial function 1. IDH3G is also implicated in HIV-1 pathogenesis, where knockdown increases CD4 levels and reduces viral replication 4, and in gastric cancer drug resistance, where knockdown sensitizes cells to chemotherapy 5.

Sources cited
1
IDH3G is the gamma subunit of mitochondrial IDH3, expressed in photoreceptor inner segments, and causes X-linked retinitis pigmentosa when mutated through partial loss of enzymatic activity
PMID: 40119724
2
IDH3G is a TCA cycle gene whose transcription is potentiated by PGC-1α through ERR and Gabpa transcription factors
PMID: 39151728
3
IDH3G mRNA is upregulated by lactate through histone lactylation-mediated gene expression in non-small cell lung cancer
PMID: 34150616
4
IDH3G knockdown significantly increases CD4 levels in HIV-infected T cells and decreases HIV-1 replication
PMID: 25496667
5
IDH3G knockdown sensitizes gastric cancer cells to epirubicin or cisplatin chemotherapy
PMID: 25742747
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.35Weak
spastic quadriplegic cerebral palsyOpen Targets
0.12Weak
Spastic tetraplegiaOpen Targets
0.12Weak
neuronal ceroid lipofuscinosis 1Open Targets
0.04Suggestive
familial isolated congenital aspleniaOpen Targets
0.04Suggestive
sleep apneaOpen Targets
0.03Suggestive
bone fractureOpen Targets
0.02Suggestive
osteoporosisOpen Targets
0.02Suggestive
Sleep DisorderOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
achalasia-alacrima syndromeOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
retinitis pigmentosa 1Open Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
Retinitis pigmentosa 99UniProt
Pathogenic Variants2
NM_004135.4(IDH3G):c.325C>G (p.Arg109Gly)Pathogenic
Retinitis pigmentosa 99
☆☆☆☆2025→ Residue 109
NM_004135.4(IDH3G):c.1129C>T (p.Gln377Ter)Pathogenic
Retinitis pigmentosa 99
☆☆☆☆2025→ Residue 377
View on ClinVar ↗
Related Genes
DBTProtein interaction100%OGDHProtein interaction100%DLATProtein interaction100%BCKDHBProtein interaction100%PDHBProtein interaction100%OGDHLProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
86%
Lung
86%
Ovary
78%
Liver
73%
Brain
67%
Gene Interaction Network
Click a node to explore
IDH3GDBTOGDHDLATBCKDHBPDHBOGDHL
PROTEIN STRUCTURE
Preparing viewer…
PDB6L59 · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.85Intermediate
Observed/Expected LoF0.34 [0.20–0.58]
RankingsWhere IDH3G stands among ~20K protein-coding genes
  • #7,376of 20,598
    Most Researched63
  • #4,399of 5,498
    Most Pathogenic Variants2
  • #3,927of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedIDH3G
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lactate Modulates Cellular Metabolism Through Histone Lactylation-Mediated Gene Expression in Non-Small Cell Lung Cancer.
PMID: 34150616
Front Oncol · 2021
1.00
2
A transcriptional regulatory mechanism of genes in the tricarboxylic acid cycle in the heart.
PMID: 39151728
J Biol Chem · 2024
0.90
3
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.
PMID: 40119724
Genet Med · 2025
0.80
4
Differential expression of aerobic oxidative metabolism-related proteins in diabetic urinary exosomes.
PMID: 36187097
Front Endocrinol (Lausanne) · 2022
0.70
5
Genome-wide shRNA screening identifies host factors involved in early endocytic events for HIV-1-induced CD4 down-regulation.
PMID: 25496667
Retrovirology · 2014
0.60