NADK2

Chr 5AR

NAD kinase 2, mitochondrial

Also known as: C5orf33, DECRD, MNADK, NADKD1

NCBI Gene: 133686 ENSG00000152620 UniProt: Q4G0N4 OMIM: 615787

The protein is a mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+), using either ATP or inorganic polyphosphate as the phosphoryl donor. Mutations cause 2,4-dienoyl-CoA reductase deficiency, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), suggesting some tolerance to complete gene loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

2,4-dienoyl-CoA reductase deficiencyMIM #616034

Clinical highlights

Gene-disease validity (ClinGen)

progressive encephalopathy with leukodystrophy due to DECR deficiency · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

LOF

Mechanism· G2P