APOA1BP est un gène codé par le symbole NAXE. D'autres noms incluent: 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 a une masse de 31.68kDa, une longueur d'acide aminé de 288, et est impliqué dans Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.
Nous proposons 6 des anticorps contre APOA1BP, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé 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.
Résumé Entrez
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.
Spécificité tissulaire
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).
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the NnrE/AIBP family.
Modification post-traductionnelle
Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation.
Localisation cellulaire
Mitochondrion. Secreted.
In sperm, secretion gradually increases during capacitation.
