NAXE

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 (By similarity) (PubMed:27616477). This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX (By similarity). Accelerates cholesterol efflux from endothelial cells to high-density lipoprotein (HDL) and thereby regulates angiogenesis (PubMed:23719382).

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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

Belongs to the NnrE/AIBP family.

Ubiquitously expressed, with highest levels in kidney, heart and liver. Present in cerebrospinal fluid and urine but not in serum from healthy patients. Present in serum of sepsis patients (at protein level).

• Mitochondrion
• Secreted
• In sperm, secretion gradually increases during capacitation.

AIBP, APOA1BP, YJEFN1, NAXE, NAD(P)H-hydrate epimerase, Apolipoprotein A-I-binding protein, NAD(P)HX epimerase, YjeF N-terminal domain-containing protein 1, AI-BP, YjeF_N1

• entrezGene:128240
• omim:608862
• swissprot:Q8NCW5

Proteins

31675Da