NAXE

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]

Full Name

NAD(P)HX Epimerase

Function

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. Accelerates cholesterol efflux from endothelial cells to high-density lipoprotein (HDL) and thereby regulates angiogenesis (PubMed:23719382).

Biological Process

Lipid transport Source: UniProtKB-KW
Membrane raft distribution Source: UniProtKB
Negative regulation of angiogenesis Source: UniProtKB
Nicotinamide nucleotide metabolic process Source: UniProtKB
Regulation of cholesterol efflux Source: UniProtKB
Sprouting angiogenesis Source: UniProtKB

Cellular Location

Secreted
Mitochondrion
Note: In sperm, secretion gradually increases during capacitation.

Involvement in disease

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1):
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.

PTM

Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation.