Gene
NAXE
NAD(P)HX epimerase
- HGNC 18453↗(opens in a new tab)
- Ensembl gene ENSG00000163382↗(opens in a new tab)
- NCBI Gene 128240↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q22
- Coordinates
- Chromosome 1: 156,591,776–156,594,299 (GRCh38)
- Exons
- 6 exons across 2.5 kb
- Protein
- 288 amino acids
- Also known as
- AIBP, MGC119143, MGC119144, MGC119145, YJEFN1
- Previous symbols
- APOA1BP
- MANE Select transcript
- ENST00000368235.8NM_144772.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads NAXE yet. The test sequences your whole genome, so your data includes it all the same.
How NAXE is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.1 kb of the gene's 2.5 kb; 867 of those bases code for the protein.
How a genome test reads NAXE
11
positions in NAXE where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 2.5 kb of NAXE, introns included, not only the 1.1 kb of exons.
Traits linked to NAXE
The Human Phenotype Ontology lists these as features of the rare conditions NAXE can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Coma
- Elevated brain choline level by MRS
- Encephalopathy
- Myelopathy
- Ataxia
- Abnormal gait
- Cerebellar edema
- Cervical myelopathy
Show 22 more traits
- Confusion
- Difficulty articulating speech
- EEG with abnormally slow frequencies
- Epilepsy
- Hyperintensity of cerebral white matter on MRI
- Loss of developmental milestones
- Tetraparesis
- Tremor
- Ventriculomegaly
- Abducens palsy
- Anxiety
- Behavioral abnormality
- Brain degeneration
- Cerebral white matter atrophy
- Degeneration of cerebellum
- Generalized brain degeneration
- Irritability
- Jerking
- Leukoencephalopathy
- Myoclonic seizure
- Restlessness
- Global developmental delay
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NAXE gene: NAD(P)HX epimerase. Retrieved 16 October 2026, from https://dantelabs.com/genes/naxe
Dante Labs. NAXE gene: NAD(P)HX epimerase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/naxe
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