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NADK2

Function

Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo.

Involvement in disease

2,4-dienoyl-CoA reductase deficiency

DECRD

A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the NAD kinase family.

Tissue Specificity

Widely expressed.

Cellular localization

Alternative names

C5orf33, MNADK, NADKD1, NADK2, Mitochondrial NAD kinase

swissprot:Q4G0N4 entrezGene:133686