NADK2 gene

NAD kinase 2, mitochondrial

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • 2,4-Dienoyl-CoA reductase deficiency

From UniProt:

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. [MIM:616034]

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2

Molecular Location: base pairs 36,192,589 to 36,242,279 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2
  • C5orf33
  • DECRD
  • MNADK
  • NADKD1