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Mouse Anti-NDUFAF5 Recombinant Antibody (6A9) (CBMAB-N1628-WJ)

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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
6A9
Application
WB, IHC
Specificity
Human
Antibody Isotype
IgG2b
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
1.00 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
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5
Introduction
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Entrez Gene ID
79133
UniProt ID
Q5TEU4
Alternative Names
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5; NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 5; NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 5; Putative Methyltransferase NDUFAF5; C20orf7; Probable Methyltransferase C20orf7, Mitochondrial; Arginine-Hydroxylase NDUFAF5, Mitochondrial;
Function
Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634).

Acts by mediating hydroxylation of 'Arg-111' of NDUFS7 (PubMed:27226634).

May also have methyltransferase activity (Probable).
Biological Process
Methylation Source: UniProtKB-KW
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Peptidyl-arginine hydroxylation Source: UniProtKB
Cellular Location
Mitochondrion
Mitochondrion inner membrane
Note: Peripherally localized on the matrix face of the mitochondrial inner membrane.
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16):
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. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance.

Chen, J., Wu, Y., Yu, S., Wan, X., Gong, Y., & Sun, X. (2024). Cognitive Impairment in Phenotypic Leber Hereditary Optic Neuropathy Caused by Mutation in Nuclear Gene NDUFAF5. Journal of Neuro-Ophthalmology, 44(1), e20-e22.

Chen, P. S., Lee, N. C., Sung, C. J., Liu, Y. W., Weng, W. C., Fan, P. C., ... & Lin, C. H. (2023). Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5. Movement Disorders, 38(12), 2217-2229.

Brabbing‐Goldstein, D., Kozlova, D., Bazak, L., Basel‐Salmon, L., Gilboa, Y., Marciano‐Levi, I., ... & Yaron, Y. (2023). Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of the phenotype. Ultrasound in Obstetrics & Gynecology.

Liu, Y., Wang, Y., Liu, B., Liu, W., Ma, Y., Cao, Y., ... & Wu, N. (2023). Targeting lncRNA16 by GalNAc-siRNA conjugates facilitates chemotherapeutic sensibilization via the HBB/NDUFAF5/ROS pathway. Science China Life Sciences, 1-17.

Wen, Y., Lu, G., Qiao, L., & Li, Y. (2022). A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report. Molecular Genetics & Genomic Medicine, 10(1), e1852.

Legro, N. R., Kumar, A., & Aliu, E. (2022). Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5‐related disorders. American Journal of Medical Genetics Part A, 188(3), 896-899.

Bi, H., Guo, H., Wang, Q., Zhang, X., Zhao, Y., Li, J., ... & Zhang, Y. (2021). A novel variation in the mitochondrial complex I assembly factor NDUFAF5 causes isolated bilateral striatal necrosis in childhood. Frontiers in Neurology, 12, 675616.

Mehta, D., Mansukhani, S., Whealy, M., Renaud, D., Chen, J., & Bhatti, M. T. (2020). Complex I Deficiency due to a Nuclear Mitochondrial DNA Mutation of the NDUFAF5 Gene Causing a Leber Hereditary Optic Neuropathy “Plus” Phenotypic Expression (4337).

Simon, M. T., Eftekharian, S. S., Stover, A. E., Osborne, A. F., Braffman, B. H., Chang, R. C., ... & Abdenur, J. E. (2019). Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. Molecular genetics and metabolism, 126(1), 53-63.

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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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