APOA1BP ist ein Gen, das durch das Symbol NAXE kodiert wird. Andere Namen sind: NAD(P)H-hydrate epimerase; Apolipoprotein A-I-binding protein; AI-BP; NAD(P)HX epimerase; YjeF N-terminal domain-containing protein 1; YjeF_N1; NAXE; AIBP; YJEFN1. APOA1BP hat eine Masse von 31.68kDa, eine Aminosäurelänge von 288, und ist an Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy beteiligt.
Wir bieten 6 antikörper gegen APOA1BP, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
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).
Rolle bei Krankheiten
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy: 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.
Sequenzähnlichkeiten
Belongs to the NnrE/AIBP family.
Posttranslationale Modifikation
Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation.
Zellort
Mitochondrion. Secreted.
In sperm, secretion gradually increases during capacitation.
