NAXE

Chr 1

NAD(P)HX epimerase

Also known as: AIBP, APOA1BP, PEBEL, YJEFN1

NCBI Gene: 128240 ENSG00000163382 UniProt: Q8NCW5

The NAXE protein catalyzes the epimerization of damaged forms of NAD(P)H and accelerates cholesterol efflux from endothelial cells to high-density lipoprotein. Biallelic mutations cause autosomal recessive progressive encephalopathy with early onset, characterized by brain edema and leukoencephalopathy. The gene shows low constraint to loss-of-function variation (pLI <0.001), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total

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)

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P/LP submissions

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P/LP missense

1.31

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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