NAXD Gene: NAD(P)HX Dehydratase
A key enzyme in the repair of damaged NAD(P)H cofactors, associated with progressive encephalopathy and metabolic disorders.
Gene Information Card
| Symbol | NAXD |
|---|---|
| Full Name | NAD(P)HX Dehydratase |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 55739 ncbi.nlm.nih.gov/gene/55739 |
| Ensembl ID | ENSG00000102468 |
| UniProt ID | Q8IW45 |
| OMIM ID | 615910 |
| HGNC ID | 25516 |
| Aliases | MGC10854, C13orf31, NAXD1 |
Description
The NAXD gene encodes NAD(P)HX dehydratase, an enzyme involved in the repair of damaged NAD(P)H cofactors. It catalyzes the dehydration of (S)-NAD(P)HX to NAD(P)H, preventing the accumulation of toxic metabolites. Mutations in NAXD cause a severe progressive encephalopathy with brain edema and/or Leigh syndrome, often triggered by febrile illness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive encephalopathy with brain edema and/or leukoencephalopathy | Loss-of-function mutations impair NAD(P)HX repair, leading to accumulation of toxic metabolites and mitochondrial dysfunction. | OMIM #615910, ClinVar |
| Leigh syndrome | NAXD deficiency disrupts mitochondrial energy metabolism, contributing to neurodegeneration. | OMIM #615910, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Skeletal Muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.7 | Embryonic kidney cells |
| K-562 | 8.4 | Leukemia cell line |
| SH-SY5Y | 6.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.700C>T (p.Arg234*) | Nonsense | Rare | Premature stop, loss of function |
| c.370G>A (p.Gly124Arg) | Missense | Rare | Impaired enzyme activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Most NAXD mutations result in loss of enzymatic activity, leading to NAD(P)HX accumulation and mitochondrial dysfunction.
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 dehydratase activity | • NAD(P)HX repair |
| • mitochondrion | • cytoplasm |
| • response to oxidative stress |
Pathways
• NAD(P)HX repair pathway
• Mitochondrial metabolism
Protein Summary
NAXD protein (UniProt Q8IW45) is a 327-amino acid dehydratase that specifically repairs hydrated NAD(P)H cofactors. It localizes to the cytoplasm and mitochondria, playing a critical role in maintaining redox balance and preventing metabolic toxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAXD Knockout HEK293 Cell Line | EDJ-KQ14378 | Human | 55739 | Details Get a Quote |
| NAXD Knockout A-549 Cell Line | EDJ-KQ44524 | Human | 55739 | Details Get a Quote |
| NAXD Knockout HCT 116 Cell Line | EDJ-KQ44525 | Human | 55739 | Details Get a Quote |
| NAXD Knockout HeLa Cell Line | EDJ-KQ43282 | Human | 55739 | Details Get a Quote |
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