NAXE (NAD(P)HX epimerase)

2017-08-01  

Identity

HGNC
LOCATION
1q22
LOCUSID
ALIAS
AIBP,APOA1BP,PEBEL,YJEFN1

Other Information

Locus ID:

NCBI: 128240
MIM: 608862
HGNC: 18453
Ensembl: ENSG00000163382

Variants:

dbSNP: 128240
ClinVar: 128240
TCGA: ENSG00000163382
COSMIC: NAXE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163382ENST00000368233Q5T3I4
ENSG00000163382ENST00000368234Q5T3I3
ENSG00000163382ENST00000368235Q8NCW5

Expression (GTEx)

0
10
20
30
40
50
60
70
80

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
237193822013Control of angiogenesis by AIBP-mediated cholesterol efflux.54
175216142007Adiponectin accelerates reverse cholesterol transport by increasing high density lipoprotein assembly in the liver.28
208555652010Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.27
276164772016NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.19
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
271220142016Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.7
296187052018Apolipoprotein A-1 Binding Protein Inhibits Inflammatory Signaling Pathways by Binding to Apolipoprotein A-1 in THP-1 Macrophages.7
301353042018AIBP augments cholesterol efflux from alveolar macrophages to surfactant and reduces acute lung inflammation.6

Citation

Dessen P

NAXE (NAD(P)HX epimerase)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56999/naxe