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Mouse Anti-NAXD Recombinant Antibody (CBLC109-LY) (CBMAB-C9715-LY)

The product is antibody recognizes NAXD. The antibody CBLC109-LY immunoassay techniques such as: WB, IP, IF, ELISA.
See all NAXD antibodies

Summary

Host Animal
Mouse
Specificity
Mouse
Clone
CBLC109-LY
Antibody Isotype
IgG
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Mouse
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!]

Format
Liquid
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 dehydratase
Entrez Gene ID
69225
UniProt ID
Q9CZ42
Alternative Names
0710008K08Rik, 2810407E01Rik, Carkd
Function
Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration.
Biological Process
Metabolite repair Source: GO_Central
NAD biosynthesis via nicotinamide riboside salvage pathway Source: Reactome
Cellular Location
Mitochondrion
Involvement in disease
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2):
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.

Van Bergen, N. J., Gunanayagam, K., Bournazos, A. M., Walvekar, A. S., Warmoes, M. O., Semcesen, L. N., ... & Christodoulou, J. (2023). Severe NAD (P) HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma. International Journal of Molecular Sciences, 24(4), 3582.

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.

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.

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.

Majethia, P., Mishra, S., Rao, L. P., Rao, R., & Shukla, A. (2021). NAD (P) HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature. European Journal of Medical Genetics, 64(9), 104266.

Borna, N. N., Kishita, Y., Abe, J., Furukawa, T., Ogawa-Tominaga, M., Fushimi, T., ... & Okazaki, Y. (2020). NAD (P) HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness. Brain, 143(7), e54-e54.

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.

Malik, M. U., Nadir, H., Jessop, Z. M., & Cubitt, J. J. (2020). Cutaneous manifestations of NAXD deficiency–A case report. Annals of Medicine and Surgery, 60, 352-355.

Van Bergen, N. J., Guo, Y., Rankin, J., Paczia, N., Becker-Kettern, J., Kremer, L. S., ... & Hakonarson, H. (2019). NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain, 142(1), 50-58.

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

Custom Antibody Labeling

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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