NAD kinase 2, mitochondrial (NADK2)

NAD kinase 2, mitochondrial (NADK2) is the dedicated enzyme responsible for the phosphorylation of NAD+ to NADP+ within mitochondria. This reaction supplies the essential pool of mitochondrial NADP(H), supporting antioxidant defense and redox regulation by neutralizing reactive oxygen species, as well as enabling critical biosynthetic pathways such as fatty acid synthesis, cholesterol biosynthesis, lysine degradation, and proline biosynthesis[1][2][3][4]. Unlike cytosolic NADK, NADK2 is structurally distinct, forming non-cooperative dimers rather than tetramers due to the presence of a unique insert domain (EMKA) that alters its oligomerization and regulatory properties[1][2]. Loss-of-function mutations in NADK2 disrupt mitochondrial redox balance, leading to severe multisystem metabolic disorders characterized by neuromuscular impairment, microcephaly, encephalopathy, and lethality in humans[2][3]. NADK2 is thus essential for cellular energy metabolism and mitochondrial integrity.

Other names

C5orf33MNADKNADKD1FLJ30596Mitochondrial NAD kinaseNAD kinase domain-containing protein 1, mitochondrialDECRD