NAXE Gene - NAD(P)HX Epimerase
Essential Metabolite Repair Enzyme in Cellular Homeostasis
Gene Information Card
| Symbol | NAXE |
|---|---|
| Full Name | NAD(P)HX Epimerase |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 128240 ncbi.nlm.nih.gov/gene/128240 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q8NCW5 |
| OMIM ID | 608862 |
| HGNC ID | 18443 |
| Aliases | APOA1BP, YJEFN1, NAD(P)H-hydrate epimerase |
Description
The NAXE gene encodes NAD(P)HX epimerase, an enzyme involved in the repair of damaged NADH and NADPH metabolites. It catalyzes the epimerization of NAD(P)HX, preventing the accumulation of toxic metabolites and maintaining cellular redox balance. Mutations in NAXE cause early infantile epileptic encephalopathy-38 (EIEE38), a severe neurological disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Early infantile epileptic encephalopathy 38 (EIEE38) | Loss of NAXE function leads to accumulation of NAD(P)HX, impairing mitochondrial metabolism and causing neurodegeneration. | OMIM #617393; ClinVar; PMID: 27545674 |
| Leigh syndrome-like phenotype | Defective metabolite repair disrupts energy production, mimicking mitochondrial encephalopathy. | PMID: 27545674; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Heart | 5.1 | Medium |
| Brain | 4.3 | Low |
| Skeletal muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.9 | Hepatocyte-derived |
| HEK 293 | 6.2 | Embryonic kidney |
| SH-SY5Y | 4.1 | Neuroblastoma |
| K-562 | 3.5 | Lymphoblast |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | Nonsense | Rare | Loss of function; truncation |
| c.202G>A (p.Gly68Arg) | Missense | Rare | Impaired enzyme activity |
| c.340C>T (p.Arg114Trp) | Missense | Rare | Reduced stability |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most NAXE mutations are loss-of-function, leading to reduced or absent epimerase activity and accumulation of toxic NAD(P)HX.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • NAD(P)HX epimerase activity (GO:0003854) | • NAD(P)H-hydrate epimerase activity (GO:0052855) |
| • cellular response to oxidative stress (GO:0034599) | • mitochondrion (GO:0005739) |
| • cytosol (GO:0005829) |
Pathways
• Metabolite repair pathway (NAD(P)HX epimerization)
• Nicotinamide metabolism
Protein Summary
NAXE is a 302-amino acid protein localized to the cytosol and mitochondria. It functions as a homodimer, catalyzing the epimerization of NAD(P)HX to its correct form, thereby preventing the inhibition of dehydrogenases and maintaining NAD(P)H pool integrity. Deficiency leads to severe neurological phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAXE Knockout HEK293 Cell Line | EDJ-KQ14379 | Human | 128240 | Details Get a Quote |
| NAXE Knockout A-549 Cell Line | EDJ-KQ44527 | Human | 128240 | Details Get a Quote |
| NAXE Knockout HCT 116 Cell Line | EDJ-KQ44528 | Human | 128240 | Details Get a Quote |
| NAXE Knockout HeLa Cell Line | EDJ-KQ44529 | Human | 128240 | Details Get a Quote |
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