C57BL/6JCya-Ndufaf6em1flox/Cya
Common Name:
Ndufaf6-flox
Product ID:
S-CKO-16610
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ndufaf6-flox
Strain ID
CKOCMP-76947-Ndufaf6-B6J-VA
Gene Name
Product ID
S-CKO-16610
Gene Alias
2310030N02Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ndufaf6em1flox/Cya mice (Catalog S-CKO-16610) 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
Overview of Gene Research
NDUFAF6, an assembly factor not part of the complex I (CI) holoenzyme, is crucial for the assembly of CI in mitochondria [1,3,4]. CI deficiencies are a major cause of primary mitochondrial disease, and NDUFAF6's role in facilitating the incorporation of NDUFS8 into CI is vital for mitochondrial function [1].
In breast cancer, knockdown of NDUFAF6 reduces cell proliferation and migration, promotes apoptosis and mitophagy, and increases mitochondrial dysfunction [2].
In childhood, mutations in NDUFAF6 can cause isolated bilateral striatal necrosis and progressive dystonia, as well as Leigh syndrome, a neurodegenerative disorder [3,4].
A cross-sectional study in Chinese rural elderly also found that the TT genotype of NDUFAF6 rs6982393 was associated with an increased risk of Alzheimer's disease, especially in those aged 60-69 [5].
In conclusion, NDUFAF6 is essential for mitochondrial complex I assembly. Studies, including knockdown in breast cancer cells and mutation analysis in childhood diseases and Alzheimer's disease, have revealed its significance in various disease conditions. These findings highlight its potential as a therapeutic target and biomarker in multiple diseases.
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/
4. Kim, Jaewon, Lee, Jaewoong, Jang, Dae-Hyun. 2022. NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature. In Frontiers in pediatrics, 10, 812408. doi:10.3389/fped.2022.812408. https://pubmed.ncbi.nlm.nih.gov/35664867/
5. Cheng, Yingzhe, Li, Yuanjing, Liang, Xiaoyan, Wang, Nan, Du, Yifeng. 2022. Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study. In Clinical interventions in aging, 17, 185-194. doi:10.2147/CIA.S345784. https://pubmed.ncbi.nlm.nih.gov/35237031/
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