NAXE gene

NAD(P)HX epimerase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX.

From NCBI Gene:

  • ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY

From UniProt:

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL): An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. [MIM:617186]

Cytogenetic Location: 1q22, which is the long (q) arm of chromosome 1 at position 22

Molecular Location: base pairs 156,591,762 to 156,599,818 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q22, which is the long (q) arm of chromosome 1 at position 22
  • AIBP
  • APOA1BP
  • PEBEL
  • YJEFN1