Mouse Anti-NUBPL Recombinant Antibody (1C5) (CBMAB-N3832-WJ)

Name: Mouse Anti-NUBPL Recombinant Antibody (1C5)
SKU: CBMAB-N3832-WJ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

1C5

Application

FC, IHC-P, WB

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

0.61 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.

More Infomation

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.

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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Isotype control

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

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