APOA1BP è un gene codificato dal simbolo NAXE. Altri nomi includono: 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 ha una massa di 31.68kDa, una lunghezza di amminoacidi di 288, ed è implicato in Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.
Offriamo 6 anticorpi contro APOA1BP, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
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).
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the NnrE/AIBP family.
Modifica post-translazionale
Undergoes physiological phosphorylation during sperm capacitation, downstream to PKA activation.
Posizione cellulare
Mitochondrion. Secreted.
In sperm, secretion gradually increases during capacitation.