NNT Chromosome 5
Nicotinamide nucleotide transhydrogenase
Upload your DNA to see your personal genotypes for variants in NNT.
What This Gene Does
This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]
Associated Conditions (4)
Inborn genetic diseases
NNT-related disorder
Glucocorticoid deficiency 4
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY
Key Variants
RS139947920
Conflicting classifications of pathogenicity
Inborn genetic diseases, NNT-related disorder, Inborn genetic diseases
Health Risk
RS747389406
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1739624229
Likely pathogenic
Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
Health Risk
RS1741493255
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2478364756
Likely pathogenic
Health Risk
RS886039788
Likely pathogenic
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY, Glucocorticoid deficiency 4, GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY
Health Risk
RS1437719035
Pathogenic
Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
Health Risk
RS1579966821
Pathogenic
Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
Health Risk
RS2111935997
Pathogenic
Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
Health Risk
RS2478488956
Pathogenic
Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
Health Risk
RS2478489596
Pathogenic
Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
Health Risk
RS2478499700
Pathogenic
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139947920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NNT-related disorder, Inborn genetic diseases |
| RS747389406 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1739624229 | Health Risk | Likely pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS1741493255 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2478364756 | Health Risk | Likely pathogenic | — |
| RS886039788 | Health Risk | Likely pathogenic | GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY, Glucocorticoid deficiency 4, GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY |
| RS1437719035 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS1579966821 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS2111935997 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS2478488956 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS2478489596 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS2478499700 | Health Risk | Pathogenic | — |
| RS370273690 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS387907232 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS387907233 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS387907234 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS786205344 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS786205345 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS864309519 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS886039786 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS886039787 | Health Risk | Pathogenic | GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY |
| RS886039789 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |
| RS886039790 | Health Risk | Pathogenic | Glucocorticoid deficiency 4, Glucocorticoid deficiency 4 |