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Mouse Anti-NDUFAF5 Recombinant Antibody (4A9) (CBMAB-A0969-LY)

The product is antibody recognizes C20orf7. The antibody 4A9 immunoassay techniques such as: ELISA.
See all NDUFAF5 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
4A9
Antibody Isotype
IgG2b, κ
Application
ELISA

Basic Information

Immunogen
C20orf7 (AAH05984, 1 a.a. ~ 158 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2b, κ
Clonality
Monoclonal
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
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5
Entrez Gene ID
79133
UniProt ID
Q5TEU4
Alternative Names
FLJ22324; MGC90272; bA526K24.2; dJ842G6.1
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.

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