NAXE Chromosome 1
NAD(P)HX epimerase
Upload your DNA to see your personal genotypes for variants in NAXE.
What This Gene Does
The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Encephalopathy
progressive
early-onset
with brain edema and/or leukoencephalopathy
1
NAXE-related disorder
Key Variants
RS779820587
Conflicting classifications of pathogenicity
Encephalopathy, progressive, early-onset
Health Risk
RS886041062
Conflicting classifications of pathogenicity
Encephalopathy, progressive, early-onset
Health Risk
RS1205686109
Likely pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS1258884250
Likely pathogenic
NAXE-related disorder, NAXE-related disorder
Health Risk
RS2102491191
Likely pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS1064796609
Pathogenic
Health Risk
RS1178037334
Pathogenic
Health Risk
RS139093330
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS1677397982
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS1677398842
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS2102489197
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS2102489248
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779820587 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, progressive, early-onset |
| RS886041062 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, progressive, early-onset |
| RS1205686109 | Health Risk | Likely pathogenic | Encephalopathy, progressive, early-onset |
| RS1258884250 | Health Risk | Likely pathogenic | NAXE-related disorder, NAXE-related disorder |
| RS2102491191 | Health Risk | Likely pathogenic | Encephalopathy, progressive, early-onset |
| RS1064796609 | Health Risk | Pathogenic | — |
| RS1178037334 | Health Risk | Pathogenic | — |
| RS139093330 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS1677397982 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS1677398842 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS2102489197 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS2102489248 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS371872027 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS572486885 | Health Risk | Pathogenic | — |
| RS759251812 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS765587923 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS766617434 | Health Risk | Pathogenic | — |
| RS879255647 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS886041063 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS886041064 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |