Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 128240
MIM: 608862
HGNC: 18453
Ensembl: ENSG00000163382
Variants:
dbSNP: 128240
ClinVar: 128240
TCGA: ENSG00000163382
COSMIC: NAXE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163382 | ENST00000368233 | Q5T3I4 |
| ENSG00000163382 | ENST00000368234 | Q5T3I3 |
| ENSG00000163382 | ENST00000368235 | Q8NCW5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36773198 | 2024 | Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children. | 0 |
| 37832842 | 2024 | Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1α Activation. | 0 |
| 36773198 | 2024 | Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children. | 0 |
| 37832842 | 2024 | Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1α Activation. | 0 |
| 34120322 | 2022 | A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy. | 8 |
| 35819538 | 2022 | Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation. | 0 |
| 34120322 | 2022 | A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy. | 8 |
| 35819538 | 2022 | Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation. | 0 |
| 33932069 | 2021 | NAD(P)HX epimerase downregulation promotes tumor progression through ROS/HIF-1α signaling in hepatocellular carcinoma. | 6 |
| 33932069 | 2021 | NAD(P)HX epimerase downregulation promotes tumor progression through ROS/HIF-1α signaling in hepatocellular carcinoma. | 6 |
| 31745726 | 2020 | Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. | 16 |
| 31758406 | 2020 | Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child. | 8 |
| 32020600 | 2020 | Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. | 35 |
| 32787522 | 2020 | Cholesterol Efflux-Independent Modification of Lipid Rafts by AIBP (Apolipoprotein A-I Binding Protein). | 9 |
| 31745726 | 2020 | Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. | 16 |
Citation
Dessen P
NAXE (NAD(P)HX epimerase)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/56999/naxe-(nad(p)hx-epimerase)
