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Rabbit Anti-NAXE Recombinant Antibody (EG108) (CBMAB-EN116-LY)

The product is antibody recognizes NAXE . The antibody EG108 immunoassay techniques such as: WB: 1:500~1:1000 IF: 1:100~1:500 ELISA: 1:40000.
See all NAXE antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
EG108
Antibody Isotype
IgG
Application
WB: 1:500~1:1000 IF: 1:100~1:500 ELISA: 1:40000

Basic Information

Immunogen
The antibody was produced against synthesized peptide derived from internal of human AIBP.
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
NAD(P)HX Epimerase
Introduction
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]
Entrez Gene ID
Human128240
Mouse246703
Rat295229
UniProt ID
HumanQ8NCW5
MouseQ8K4Z3
RatB0BNM1
Alternative Names
NAD(P)HX Epimerase; YjeF N-Terminal Domain-Containing Protein 1; Apolipoprotein A-I-Binding Protein; NAD(P)H-Hydrate Epimerase; ApoA-I Binding Protein; YjeF_N1; APOA1BP;
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.

Mohammadi, P., Heidari, M., Ashrafi, M. R., Mahdieh, N., & Garshasbi, M. (2022). A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy. Acta Neurologica Belgica, 122(5), 1201-1210.

Van Bergen, N. J., Walvekar, A. S., Patraskaki, M., Sikora, T., Linster, C. L., & Christodoulou, J. (2022). Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency. Journal of Inherited Metabolic Disease, 45(6), 1028-1038.

Manor, J., Calame, D., Gijavanekar, C., Fisher, K., Hunter, J., Mizerik, E., ... & Elsea, S. H. (2022). NAXE deficiency: A neurometabolic disorder of NAD (P) HX repair amenable for metabolic correction. Molecular genetics and metabolism, 136(2), 101-110.

Oz Tuncer, G., Randa, N. C., Aydin, S., & Aksoy, A. (2022). A Case with NAD (P) HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder. Molecular Syndromology, 13(4), 332-336.

Sun, B., Yu, L., Xu, C., Li, Y. M., Zhao, Y. R., Cao, M. M., & Yang, L. Y. (2021). NAD (P) HX epimerase downregulation promotes tumor progression through ROS/HIF‐1α signaling in hepatocellular carcinoma. Cancer Science, 112(7), 2753-2769.

Zhou, J., Li, J., Stenton, S. L., Ren, X., Gong, S., Fang, F., & Prokisch, H. (2020). NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain, 143(2), e8-e8.

Van Bergen, N. J., Linster, C. L., & Christodoulou, J. (2020). Reply: NAD (P) HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness. Brain, 143(7), e55-e55.

Trinh, J., Imhoff, S., Dulovic-Mahlow, M., Kandaswamy, K. K., Tadic, V., Schäfer, J., ... & Brüggemann, N. (2020). Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. Journal of neurology, 267, 770-782.

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For research use only. Not intended for any clinical use.

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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