IDH3G
Isocitrate Dehydrogenase 3 (NAD+) Gamma Subunit
Gene Information Card
| Symbol | IDH3G |
|---|---|
| Full Name | Isocitrate Dehydrogenase 3 (NAD+) Gamma Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 3421 ncbi.nlm.nih.gov/gene/3421 |
| Ensembl ID | ENSG00000167851 |
| UniProt ID | P51553 |
| OMIM ID | 300089 |
| HGNC ID | 5387 |
| Aliases | H-IDH, IDH3GAMMA |
Description
IDH3G encodes the gamma subunit of the NAD+-dependent isocitrate dehydrogenase 3 (IDH3) complex, which catalyzes the oxidative decarboxylation of isocitrate to alpha-ketoglutarate in the tricarboxylic acid (TCA) cycle. The IDH3 complex is a heterotetramer composed of two alpha, one beta, and one gamma subunit. IDH3G is essential for mitochondrial energy metabolism and is predominantly expressed in heart, skeletal muscle, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa 94 (RP94) | Loss-of-function mutations in IDH3G impair TCA cycle flux, leading to retinal photoreceptor degeneration. | ClinVar; PMID: 28343629 |
| IDH3G Deficiency (Mitochondrial) | Biallelic pathogenic variants reduce IDH3 enzymatic activity, causing metabolic acidosis and neurological symptoms. | OMIM #300089; PMID: 28343629 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 48.2 | High |
| Skeletal Muscle | 35.1 | High |
| Brain | 22.8 | Medium |
| Liver | 12.4 | Medium |
| Kidney | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.5 | High expression |
| HeLa | 18.3 | Moderate expression |
| K562 | 9.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.359G>A (p.Arg120Gln) | Missense | Rare | Loss of enzymatic activity; associated with retinitis pigmentosa |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; associated with IDH3G deficiency |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense and start-loss variants reduce or abolish IDH3 activity, leading to TCA cycle dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported for IDH3G.
Dominant Negative (DN)
No dominant-negative mutations reported; IDH3G mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • isocitrate dehydrogenase (NAD+) activity | • mitochondrion |
| • tricarboxylic acid cycle | • magnesium ion binding |
| • NAD binding |
Pathways
• TCA Cycle (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
• Citrate cycle (Reactome: R-HSA-71403)
Protein Summary
The IDH3G protein (UniProt P51553) is a 393-amino acid mitochondrial subunit of the NAD+-dependent isocitrate dehydrogenase complex. It is required for catalytic activity and stability of the heterotetramer. The gamma subunit contains a mitochondrial transit peptide and is highly conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IDH3G Knockout HEK293 Cell Line | EDJ-KQ4961 | Human | 3421 | Details Get a Quote |
| IDH3G Knockout A-549 Cell Line | EDJ-KQ27834 | Human | 3421 | Details Get a Quote |
| IDH3G Knockout HCT 116 Cell Line | EDJ-KQ27835 | Human | 3421 | Details Get a Quote |
| IDH3G Knockout HeLa Cell Line | EDJ-KQ27836 | Human | 3421 | Details Get a Quote |
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