NAXD Chromosome 13
NAD(P)HX dehydratase
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What This Gene Does
Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (5)
NAD(P)HX dehydratase deficiency
Inborn genetic diseases
See cases
Squamous cell lung carcinoma
NAXD-related disorder
Key Variants
RS137876156
Conflicting classifications of pathogenicity
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
Health Risk
RS147657999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2501710405
Conflicting classifications of pathogenicity
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
Health Risk
RS369951364
Conflicting classifications of pathogenicity
Health Risk
RS559466039
Conflicting classifications of pathogenicity
NAD(P)HX dehydratase deficiency, Inborn genetic diseases, NAD(P)HX dehydratase deficiency
Health Risk
RS767778853
Conflicting classifications of pathogenicity
NAD(P)HX dehydratase deficiency, See cases, NAD(P)HX dehydratase deficiency
Health Risk
RS1331075407
Likely pathogenic
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
Health Risk
RS2139640370
Likely pathogenic
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
Health Risk
RS2501698946
Likely pathogenic
Health Risk
RS2501698949
Likely pathogenic
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
Health Risk
RS1566614549
Pathogenic
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
Health Risk
RS1566623786
Pathogenic
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137876156 | Health Risk | Conflicting classifications of pathogenicity | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS147657999 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2501710405 | Health Risk | Conflicting classifications of pathogenicity | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS369951364 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS559466039 | Health Risk | Conflicting classifications of pathogenicity | NAD(P)HX dehydratase deficiency, Inborn genetic diseases, NAD(P)HX dehydratase deficiency |
| RS767778853 | Health Risk | Conflicting classifications of pathogenicity | NAD(P)HX dehydratase deficiency, See cases, NAD(P)HX dehydratase deficiency |
| RS1331075407 | Health Risk | Likely pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS2139640370 | Health Risk | Likely pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS2501698946 | Health Risk | Likely pathogenic | — |
| RS2501698949 | Health Risk | Likely pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS1566614549 | Health Risk | Pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS1566623786 | Health Risk | Pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS1886017689 | Health Risk | Pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS201720770 | Health Risk | Pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS2501658190 | Health Risk | Pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS2501676936 | Health Risk | Pathogenic | Squamous cell lung carcinoma, Squamous cell lung carcinoma |
| RS773887880 | Health Risk | Pathogenic | NAD(P)HX dehydratase deficiency, NAXD-related disorder, NAD(P)HX dehydratase deficiency |
| RS778824382 | Health Risk | Pathogenic | NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |