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Mouse Anti-NUBPL Recombinant Antibody (2C8) (CBMAB-N3833-WJ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
2C8
Antibody Isotype
IgG1
Application
FC, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
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
Buffer
PBS, pH 7.3, 1% BSA, 50% glycerol
Preservative
0.02% sodium azide
Concentration
0.68 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Nucleotide Binding Protein Like
Introduction
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. [provided by RefSeq, May 2014]
Entrez Gene ID
80224
UniProt ID
Q8TB37
Alternative Names
Nucleotide Binding Protein Like; Iron-Sulfur Protein Required For NADH Dehydrogenase; IND1 Homolog; C14orf127; HuInd1; Chromosome 14 Open Reading Frame 127;
Function
Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.
Biological Process
Iron-sulfur cluster assemblyManual Assertion Based On ExperimentIBA:GO_Central
Mitochondrial respiratory chain complex I assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Mitochondrion morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Mitochondrion
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21):
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance.
More Infomation

Tonduti, D., Zambon, A. A., Ghezzi, D., Lamantea, E., Izzo, R., Parazzini, C., ... & Fumagalli, F. (2023). Expanding the Spectrum of NUBPL-Related Leukodystrophy. Neuropediatrics, 54(03), 161-166.

Peter, S. B., & Vandana, G. S. (2022). Leukodystrophy Associated with Mitochondrial Complex 1 Deficiency Due to Mutation in NUBPL Gene—An Unusual Follow-Up Finding. The Indian Journal of Radiology & Imaging, 33(1), 132-135.

Cheng, C., Cleak, J., Weiss, L., Cater, H., Stewart, M., Wells, S., ... & Kimonis, V. (2022). Early embryonic lethality in complex I associated p. L104P Nubpl mutant mice. Orphanet journal of rare diseases, 17(1), 386.

Rabbo, M. A., & Stiban, J. (2022). NUBPL: a mitochondrial Complex I deficiency disorder. Bioenergetics Communications, 2022, 3-3.

Kimonis, V., Al Dubaisi, R., Maclean, A. E., Hall, K., Weiss, L., Stover, A. E., ... & Eis, P. S. (2021). NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Journal of medical genetics, 58(5), 314-325.

Friederich, M. W., Perez, F. A., Knight, K. M., Van Hove, R. A., Yang, S. P., Saneto, R. P., & Van Hove, J. L. (2020). Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Molecular genetics and metabolism, 129(3), 236-242.

Eis, P. S., Huang, N., Hatchwell, E., & Schüle, B. (2020). Loss-of-function NUBPL mutation may link parkinson's disease to recessive complex I deficiency. Frontiers in Neurology, 11, 555961.

Protasoni, M., Bruno, C., Donati, M. A., Mohamoud, K., Severino, M., Allegri, A., ... & Garone, C. (2020). Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. Molecular Genetics and Metabolism, 129(1), 26-34.

Balint, B., Charlesworth, G., Stamelou, M., Carr, L., Mencacci, N. E., Wood, N. W., & Bhatia, K. P. (2019). Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. European Journal of Neurology, 26(9), 1240-1243.

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

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