Anti-NUBPL Antibody Picoband® 0,00647 Vervoeging

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants.

RNA-binding protein Nova-2; Astrocytic NOVA1-like RNA-binding protein; Neuro-oncological ventral antigen 2; NOVA2; ANOVA; NOVA3

NUBPL

80224

Q8TB37

Human, Mouse

No cross-reactivity with other proteins.

E.coli-derived human NUBPL recombinant protein (Position: K59-E319) .

Brain. Expression restricted to astrocytes.

Flow Cytometry

Channels, Metabolism, Plasma Membrane, Signal Transduction

Immunogen affinity purified.

Liquid

May regulate RNA splicing or metabolism in a specific subset of developing neurons. Binds single strand RNA.

1. Calvo, S. E., Tucker, E. J., Compton, A. G., Kirby, D. M., Crawford, G., Burtt, N. P., Rivas, M., Guiducci, C., Bruno, D. L., Goldberger, O. A., Redman, M. C., Wiltshire, E., Wilson, C. J., Altshuler, D., Gabriel, S. B., Daly, M. J., Thorburn, D. R., Mootha, V. K. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature Genet. 42: 851-858, 2010. 2. Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. High-throughput discovery of novel developmental phenotypes. Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017. 3. Friederich, M. W., Perez, F. A., Knight, K. M., Van Hove, R. A., Yang, S. P., Saneto, R. P., Van Hove, J. L. K. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Molec. Genet. Metab. 129: 236-242, 2020.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

29370 MW

6

NOVA alternative splicing regulator 2

Nucleus.

Aquaporin-6

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.