NAXD

Chr 13

NAD(P)HX dehydratase

Also known as: CARKD, LP3298, PEBEL2

NCBI Gene: 55739 ENSG00000213995 UniProt: Q8IW45

NAXD encodes a mitochondrial enzyme that catalyzes ATP-dependent dehydration of NAD(P)HX to repair damaged NAD(P)H cofactors. Mutations cause autosomal recessive progressive encephalopathy with early onset, characterized by brain edema and leukoencephalopathy. The gene shows tolerance to loss-of-function variants (pLI 0.007, LOEUF 0.8), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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