NAXD (NAD(P)HX dehydratase)

2019-08-01  

Identity

HGNC
LOCATION
13q34
LOCUSID
ALIAS
CARKD,LP3298,PEBEL2

Other Information

Locus ID:

NCBI: 55739
MIM: 615910
HGNC: 25576
Ensembl: ENSG00000213995

Variants:

dbSNP: 55739
ClinVar: 55739
TCGA: ENSG00000213995
COSMIC: NAXD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213995ENST00000309957Q8IW45
ENSG00000213995ENST00000309957A0A024RDX4
ENSG00000213995ENST00000424185Q8IW45

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Nicotinate metabolismREACTOMER-HSA-196807
Nicotinamide salvagingREACTOMER-HSA-197264

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
305764102019NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.22
305764102019NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.22
246118042014Occurrence and subcellular distribution of the NADPHX repair system in mammals.26
246118042014Occurrence and subcellular distribution of the NADPHX repair system in mammals.26
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

NAXD (NAD(P)HX dehydratase)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58151/naxd-(nad(p)hx-dehydratase)