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Naxd Gene Detail
Summary
  • Symbol
    Naxd
  • Name
    NAD(P)HX dehydratase
  • Synonyms
    0710008K08Rik, 2810407E01Rik, Carkd
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913353
    NCBI Gene: 69225
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:11547506-11563287 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 5.73 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    648 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913353
 protein coding gene Chr8:11547506-11564960 (+)
129S1/SvImJ ENSMUSG00200012170
 protein coding gene Chr8:8429993-8447538 (+)
A/J ENSMUSG00195009793
 protein coding gene Chr8:8789153-8806609 (+)
AKR/J ENSMUSG00220010111
 protein coding gene Chr8:8518435-8535892 (+)
BALB/cJ ENSMUSG00180004356
 protein coding gene Chr8:8428239-8445696 (+)
C3H/HeJ ENSMUSG00175007937
 protein coding gene Chr8:8581053-8598507 (+)
C57BL/6NJ ENSMUSG00215004973
 protein coding gene Chr8:8462526-8479981 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030817
 protein coding gene Chr8:7944834-7962152 (+)
CAST/EiJ ENSTCUG00005019030
 protein coding gene Chr8:8423007-8440379 (+)
CBA/J ENSMUSG00210010665
 protein coding gene Chr8:8422071-8439528 (+)
DBA/2J ENSMUSG00185003794
 protein coding gene Chr8:8554842-8572297 (+)
FVB/NJ ENSMUSG00205005138
 protein coding gene Chr8:8447430-8464885 (+)
JF1/MsJ ENSUMUG00000031230
 protein coding gene Chr8:8573213-8590454 (+)
LP/J ENSMUSG00230022487
 protein coding gene Chr8:10732830-10750071 (+)
NOD/ShiLtJ ENSMUSG00190011195
 protein coding gene Chr8:8546991-8564446 (+)
NZO/HlLtJ ENSMUSG00225015742
 protein coding gene Chr8:18590035-18607577 (+)
PWK/PhJ ENSLUMG00010010841
 protein coding gene Chr8:8490890-8508339 (+)
SPRET/EiJ ENSMSPG00010016591
 protein coding gene Chr8:8620589-8636213 (+)
WSB/EiJ ENSIUOG00005004104
 protein coding gene Chr8:8439134-8456599 (+)



Homology
more
  • Human Ortholog
    NAXD, NAD(P)HX dehydratase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NAXD, NAD(P)HX dehydratase
  • Synonyms
    CARKD, LP3298, PEBEL2
  • Links
    NCBI Gene ID: 55739
    UniProt: Q8IW45

  • Chr Location
    13q34; chr13:110615460-110639996 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for null alleles exhibit depletion of the active form of vitamin B3 in the brain and skin. Serine synthesis and one-carbon metabolism is impaired in these regions and cell death is seen in the cortex and striatum. Low vitamin B3 diet accelerate the pathology, while vitamin B3 supplementation extends lifespan.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    600
  • Tissues
    3
  • cDNA Data
    87
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69225 NCBI Gene Model | MGI Sequence Detail 15782 C57BL/6J ±  kb
    transcript NM_026995 RefSeq | MGI Sequence Detail 1382 C57BL/6  
    polypeptide Q9CZ42 UniProt | EBI | MGI Sequence Detail 343 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000029646 ATP-dependent (S)-NAD(P)H-hydrate dehydratase
      (term hierarchy)
    • EC
      4.2.1.93
    • InterPro Domains
      IPR000631 ATP/ADP-dependent (S)-NAD(P)H-hydrate dehydratase
      IPR029056 Ribokinase-like
    • GlyGen
      Q9CZ42 2 sites, 3 N-linked glycans (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 88
      cDNA 87
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1916475
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Gene Ontology 13
      Phenotypes 11
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:389717 Garg A, et al., Vitamin B2 and B3 nutrigenomics reveals a therapy for NAXD disease. Cell. 2026 Feb 25;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/15/2026
    MGI 6.29     		The Jackson Laboratory