MIOX (Myo-Inositol Oxygenase)
Key enzyme in inositol catabolism and potential biomarker for kidney disease
Gene Information Card
| Symbol | MIOX |
|---|---|
| Full Name | Myo-Inositol Oxygenase |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 55586 ncbi.nlm.nih.gov/gene/55586 |
| Ensembl ID | ENSG00000100253 |
| UniProt ID | Q9UQJ7 |
| OMIM ID | 606774 |
| HGNC ID | 14523 |
| Aliases | ALDR1, MIOX1 |
Description
MIOX encodes myo-inositol oxygenase, the first and rate-limiting enzyme in myo-inositol catabolism. It catalyzes the conversion of myo-inositol to D-glucuronate, a key step in the inositol phosphate pathway. The enzyme is highly expressed in the kidney and liver and plays a role in cellular osmolyte regulation and oxidative stress. Dysregulation of MIOX is implicated in diabetic nephropathy and other kidney disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic Nephropathy | Increased MIOX expression leads to enhanced inositol catabolism, generating reactive oxygen species and contributing to tubular injury. | PMID: 21880747 |
| Chronic Kidney Disease | Elevated MIOX activity correlates with renal fibrosis and oxidative stress markers. | PMID: 25655749 |
| Acute Kidney Injury | MIOX upregulation in proximal tubules exacerbates ischemia-reperfusion injury. | PMID: 27335427 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 48.2 | High |
| Liver | 12.5 | Medium |
| Small Intestine | 3.1 | Low |
| Pancreas | 1.8 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HK-2 (proximal tubule) | 52.3 | High expression; used in diabetic nephropathy models |
| HepG2 (liver) | 14.1 | Moderate expression |
| HEK293 (embryonic kidney) | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.421C>T (p.Arg141Trp) | Missense | <0.01% | Reduced enzyme activity in vitro |
| c.638G>A (p.Arg213Gln) | Missense | <0.01% | Unknown functional effect |
| c.1003C>T (p.Arg335*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce catalytic activity are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • inositol oxygenase activity (GO:0050113) | • integral component of membrane (GO:0016021) |
| • myo-inositol metabolic process (GO:0006020) | • oxidation-reduction process (GO:0055114) |
Pathways
• myo-inositol degradation (Reactome: R-HSA-1855189)
• ascorbate and aldarate metabolism (KEGG: hsa00053)
Protein Summary
Myo-inositol oxygenase (MIOX) is a 285-amino acid protein that belongs to the inositol oxygenase family. It contains a non-heme di-iron center essential for its catalytic activity. The enzyme is localized to the peroxisomal membrane and is highly expressed in renal proximal tubules. MIOX activity is regulated by substrate availability and oxidative stress, and its overexpression is linked to kidney pathology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIOX Knockout HEK293 Cell Line | EDJ-KQ14268 | Human | 55586 | Details Get a Quote |
| MIOX Knockout HeLa Cell Line | EDJ-KQ56605 | Human | 55586 | Details Get a Quote |
| MIOX Knockout A-549 Cell Line | EDJ-KQ65104 | Human | 55586 | Details Get a Quote |
| MIOX Knockout HCT 116 Cell Line | EDJ-KQ73550 | Human | 55586 | Details Get a Quote |
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