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C57BL/6JCya-Ndufaf6em1/Cya
Common Name:
Ndufaf6-KO
Product ID:
S-KO-16621
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ndufaf6-KO
Strain ID
KOCMP-76947-Ndufaf6-B6J-VB
Gene Name
Ndufaf6
Product ID
S-KO-16621
Gene Alias
2310030N02Rik
Background
C57BL/6JCya
NCBI ID
76947
Modification
Conventional knockout
Chromosome
4
Phenotype
MGI:1924197
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ndufaf6em1/Cya mice (Catalog S-KO-16621) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000058183
NCBI RefSeq
NM_001085493
Target Region
Exon 2
Size of Effective Region
~1.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
NDUFAF6, a mitochondrial complex I assembly factor, is crucial for the proper assembly of complex I (CI) in the electron transport chain. Defects in CI, which is a major cause of primary mitochondrial disease, can arise from issues with NDUFAF6 as it is not part of the CI holoenzyme [1]. It specifically facilitates the incorporation of NDUFS8 into CI, thereby playing a vital role in mitochondrial function and associated metabolic pathways [1].

Knockdown of NDUFAF6 in breast cancer cells using small interfering RNA showed that it reduces cell proliferation and migration ability. It also promotes apoptosis and mitophagy, accompanied by mitochondrial dysfunction and changes in cellular metabolism. This indicates that NDUFAF6 may be a potential molecular target for breast cancer therapy [2].

In addition, in a pedigree of 3 siblings with Leigh syndrome and compound heterozygous NDUFAF6 mutations, patient mutations were associated with the absence of the NDUFAF6 protein, reduced activity and assembly of mature complex I in fibroblasts. The mutant phenotype was rescued by the canonical version of the NDUFAF6, suggesting NDUFAF6-related Leigh syndrome is a relevant cause of childhood onset dystonia and isolated bilateral striatal necrosis [3].

In summary, NDUFAF6 is essential for complex I assembly in mitochondria. Its loss-of-function in models, such as knockdown in breast cancer cells and mutations in patients with Leigh syndrome, reveals its significant role in disease-related biological processes. These findings highlight the importance of NDUFAF6 in understanding mitochondrial-related diseases like breast cancer and Leigh syndrome, and potentially offer new therapeutic directions.

References:

1. Sung, Andrew Y, Guerra, Rachel M, Steenberge, Laura H, Keck, James L, Pagliarini, David J. 2024. Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. In Nature metabolism, 6, 1128-1142. doi:10.1038/s42255-024-01039-2. https://pubmed.ncbi.nlm.nih.gov/38720117/

2. Wu, Shang, Ma, Xindi, Zhang, Xiangmei, Su, Suwen, Liu, Yunjiang. 2024. Knockdown of NDUFAF6 inhibits breast cancer progression via promoting mitophagy and apoptosis. In Cancer biology & therapy, 26, 2445220. doi:10.1080/15384047.2024.2445220. https://pubmed.ncbi.nlm.nih.gov/39706687/

3. Baide-Mairena, Heidy, Gaudó, Paula, Marti-Sánchez, Laura, Bayona-Bafaluy, María Pilar, Pérez-Dueñas, Belén. 2019. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. In Molecular genetics and metabolism, 126, 250-258. doi:10.1016/j.ymgme.2019.01.001. https://pubmed.ncbi.nlm.nih.gov/30642748/

Quality Control Standard
Sperm Test

Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.

Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.

Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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