ACN9
- Known as:
- ACN9
- Catalog number:
- 001013A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACN9
Related genes to: ACN9
- Gene:
- SDHAF3 NIH gene
- Name:
- succinate dehydrogenase complex assembly factor 3
- Previous symbol:
- ACN9
- Synonyms:
- DC11, Sdh7, LYRM10
- Chromosome:
- 7q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-07-23
- Date modifiied:
- 2016-10-05
Related products to: ACN9
Related articles to: ACN9
- Mitochondrial DNA (mtDNA) disorders exhibit striking clinical variability that is poorly explained by known factors such as variant heteroplasmy, age, or sex. Nuclear genetic modifiers likely play a significant role in this heterogeneity. We aimed to characterize the nature of nuclear genetic involvement for 2 common syndromic presentations of the common pathogenic mtDNA variant, m.3243A>G: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and maternally inherited diabetes and deafness (MIDD). - Source: PubMed
Publication date: 2026/07/16
Boggan Róisín MMichalettou Theodora-DafniNg Yi ShiauFranklin Imogen GCortés Lucas TAlston Charlotte LBlakely Emma LBüchner BorianaBugiardini EnricoColclough KevinFeeney CatherineHanna Michael GHattersley Andrew TKlopstock ThomasKornblum CorneliaMancuso MichelangeloPatel Kashyap APitceathly Robert D SPizzamiglio ChiaraProkisch HolgerSchäfer JochenSchaefer Andrew MShepherd Maggie HThaele AnnemarieThomas Rhys HTurnbull Doug MWoodward Cathy EMcFarland RobertTaylor Robert WCordell Heather JPickett Sarah J - Drug-induced QT prolongation (diQTP) can lead to rare, but potentially fatal adverse effects of many medications, yet individual susceptibility varies due to both clinical and genetic factors. SDHAF3 p.F53L (rs62624461) is a genetic variant that plays a role in mitochondrial function and was previously associated with diQTP in one small prior study. Therefore, the objective of this retrospective pharmacogenetic study was to evaluate whether SDHAF3 p.F53L is associated with clinically significant diQTP. Data were obtained from the Michigan Genomics Initiative, which links genotype information with electronic health records at Michigan Medicine. Adult patients with available genotype and electrocardiogram data who received at least one high-risk QT-prolonging drug between 2001 and 2022 were included. The analysis was limited to 5848 patients of European ancestry, of whom 320 (5.5%) were carriers of the SDHAF3 p.F53L variant. QT prolongation was defined as a QTc greater than or equal to 500 ms or an increase greater than 60 ms from baseline during high-risk QT-prolonging drug prescription. Logistic regression under a dominant genetic model assessed associations between variant carrier status and diQTP, with and without propensity score adjustment. Baseline demographics and comorbidities were similar between carriers and noncarriers. No significant association was observed between SDHAF3 p.F53L and diQTP [unadjusted odds ratio (OR) = 1.06, 95% confidence interval (CI) = 0.76-1.48, P = 0.742; adjusted OR = 1.05, 95% CI = 0.74-1.51, P = 0.773]. These results suggest that SDHAF3 p.F53L does not meaningfully influence diQTP risk in a large, real-world clinical cohort. Future studies should examine this variant across diverse populations. - Source: PubMed
Publication date: 2026/07/28
Aalibraheem AhmedLopez-Medina Ana IChahal Choudhary Anwar ALuzum Jasmine A - The research aims to understand Alzheimer's genetic and immune landscapes using the amalgamation of three technologies: artificial intelligence (GenAI), integrative bioinformatics, and single-cell analysis. First, the study aims to identify and characterize the significant genes associated with Alzheimer's disease (AD) using three GenAI models (GPT‑4o, Gemini model, and DeepSeek). After the genes were accumulated from GenAI models, 27 genes associated with AD were recoded. Furthermore, they were analyzed using integrative bioinformatics methods. Similarly, the immune landscape of AD using single-cell analysis was also explored, which reveals a high percentage of effector CD8 T cells (33.42%) and naive T cells (45.95%). The single-cell study found that effector memory T cells have two subsets. It also found that the macrophage population has started to spread and dendritic cells have decreased in Alzheimer's patients. The single-cell gene expression study reveals the top ten highly expressed genes (, , , , , , , , , and ). The clonal frequency indicates that CD8 T and naive T cell populations show the highest clonal frequency in healthy and AD individuals and are further noted them in the clonotype cell proportion study. Following our GenAI and single-cell profiling strategy, future studies will help in quickly understanding the genetic and immune basis of many diseases. - Source: PubMed
Publication date: 2025/04/24
Das ArpitaBhattacharya ManojitAbdelhameed Ali SaberLee Sang-SooChakraborty Chiranjib - Buffaloes are crucial to agriculture, yet mitochondrial biology in these animals is less studied compared to humans and laboratory animals. This research examines tissue-specific variations in mitochondrial succinate dehydrogenase (SDH) gene expression across buffalo kidneys, hearts, brains, and ovaries. Understanding these variations sheds light on mitochondrial energy metabolism and its impact on buffalo health and productivity, revealing insights into enzyme regulation and potential improvements in livestock management. - Source: PubMed
Publication date: 2024/10/19
Sadeesh E MMalik AnujLahamge Madhuri SSingh Pratiksha - Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid paragangliomas. Both diagnostics and therapy of the tumors raise significant challenges. Besides, the genetic and molecular mechanisms behind VPGL pathogenesis are poorly understood. - Source: PubMed
Publication date: 2020/09/18
Kudryavtseva Anna VKalinin Dmitry VPavlov Vladislav SSavvateeva Maria VFedorova Maria SPudova Elena AKobelyatskaya Anastasiya AGolovyuk Alexander LGuvatova Zulfiya GRazmakhaev George SDemidova Tatiana BSimanovsky Sergey ASlavnova Elena NPoloznikov Andrey АPolyakov Andrey PMelnikova Nataliya VDmitriev Alexey AKrasnov George SSnezhkina Anastasiya V