NADK2 Chromosome 5
NAD kinase 2, mitochondrial
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What This Gene Does
This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Associated Conditions (4)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
NADK2-related disorder
Inborn genetic diseases
Bardet-Biedl syndrome 10
Key Variants
RS190440332
Conflicting classifications of pathogenicity
Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
Health Risk
RS62353845
Conflicting classifications of pathogenicity
Progressive encephalopathy with leukodystrophy due to DECR deficiency, NADK2-related disorder, Inborn genetic diseases
Health Risk
RS751370720
Conflicting classifications of pathogenicity
Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
Health Risk
RS754656023
Conflicting classifications of pathogenicity
Progressive encephalopathy with leukodystrophy due to DECR deficiency, Bardet-Biedl syndrome 10, Progressive encephalopathy with leukodystrophy due to DECR deficiency
Health Risk
RS756013479
Conflicting classifications of pathogenicity
Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
Health Risk
RS587777772
Likely pathogenic
Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
Health Risk
RS1746670652
Pathogenic
Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS190440332 | Health Risk | Conflicting classifications of pathogenicity | Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency |
| RS62353845 | Health Risk | Conflicting classifications of pathogenicity | Progressive encephalopathy with leukodystrophy due to DECR deficiency, NADK2-related disorder, Inborn genetic diseases |
| RS751370720 | Health Risk | Conflicting classifications of pathogenicity | Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency |
| RS754656023 | Health Risk | Conflicting classifications of pathogenicity | Progressive encephalopathy with leukodystrophy due to DECR deficiency, Bardet-Biedl syndrome 10, Progressive encephalopathy with leukodystrophy due to DECR deficiency |
| RS756013479 | Health Risk | Conflicting classifications of pathogenicity | Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency |
| RS587777772 | Health Risk | Likely pathogenic | Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency |
| RS1746670652 | Health Risk | Pathogenic | Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency |