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Rabbit Anti-NDUFAF5 Recombinant Antibody (EPR15870) (CBMAB-1613-CN)

This product is a rabbit antibody that recognizes NDUFAF5 of human. The antibody EPR15870 can be used for immunoassay techniques such as: IHC-P, IF, IP, WB, FC.
See all NDUFAF5 antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
EPR15870
Antibody Isotype
IgG
Application
IHC-P, IF, IP, WB, FC

Basic Information

Immunogen
Recombinant fragment within Human C20orf7 aa. 200 to the C-terminus.
Specificity
Human, Mouse, Rat
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
Buffer
59% PBS, 40% Glycerol, 0.05% BSA, pH 7.4
Preservative
0.01% Sodium azide
Concentration
2.028 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
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. The gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly.
Entrez Gene ID
Human79133
Mouse69487
Rat296190
UniProt ID
HumanQ5TEU4
MouseA2APY7
RatB2GV71
Alternative Names
C20orf7; dJ842G6.1; bA526K24.2
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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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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