ADCK4
- Known as:
- ADCK4
- Catalog number:
- 001189A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADCK4
Related genes to: ADCK4
- Gene:
- COQ8B NIH gene
- Name:
- coenzyme Q8B
- Previous symbol:
- ADCK4
- Synonyms:
- FLJ12229, COQ8
- Chromosome:
- 19q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-07-21
- Date modifiied:
- 2016-07-07
Related products to: ADCK4
Related articles to: ADCK4
- Coenzyme Q biosynthesis requires two atypical kinase-like proteins (COQ8A and COQ8B), whose detailed molecular mechanism remains unclear. Here, we show that both paralogs function as adenosine triphosphatases (ATPases) that promote coenzyme Q biosynthetic metabolon activity by engaging in loose protein-protein interactions and delivering insoluble biosynthetic intermediates. Structural bioinformatics and pathological variant-driven mutagenesis identify a previously uncharacterized pocket that selectively recognizes coenzyme Q biosynthetic intermediates via their head groups. X-ray crystallography reveals that access to this pocket is gated by long-range conformational changes controlled by adenosine 5'-triphosphate hydrolysis. Last, excess coenzyme Q suppresses binding of early-stage intermediates and thereby abolishes the promoting effect of COQ8 on the metabolon. Together, these findings support a model in which COQ8 tunes coenzyme Q biosynthesis by coupling ATPase-driven intermediate chaperoning to feedback inhibition by the final product. - Source: PubMed
Publication date: 2026/07/29
Gottinger AndreaMalatesta MarcoNicoll Callum RAnsari GeorgQuinodoz MathieuKaminska KarolinaTang Rachael W CTan Tien-EnFenner Beau JBarberán-Martínez PilarGarcía-García GemaMillán José MPfau MaximilianBurbach Natalie ECecchini DomizianaRivolta CarloMattevi Andrea - Coenzyme Q10 (CoQ10) nephropathy is a rare mitochondrial kidney disease caused by defects in CoQ10 biosynthesis and represents a unique form of steroid-resistant nephrotic syndrome with a disease-specific therapy. However, data on treatment outcomes of this disease in Japanese patients remain limited. - Source: PubMed
Publication date: 2026/07/11
Nagano ChinaUshijima KatsumiTezuka YukoOkamoto TakayukiInaba YasuhiroMiyazono AkinoriTakeda NaokoAoki TaroMizutani AkiraMiyano HirokiYamamoto MasakiImai MarikoKawaguchi TakehikoKomiya ToshiyukiIshihara MasayukiNagao YoshikiMikami NaoakiInoki YutaSakakibara NanaHorinouchi TomokoYamamura TomohikoIshimori ShingoNozu Kandai - Primary coenzyme Q10 (CoQ10) deficiency (PCOQ10D) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in genes involved in the CoQ10 biosynthetic pathway, including PDSS2, COQ2, COQ6, and COQ8B/ADCK4. Among these, pathogenic variants in the COQ2 gene impair oxidative phosphorylation and mitochondrial biogenesis in podocytes, often leading to encephalopathy and nephropathy. - Source: PubMed
Yue YuqiZhao FeiChen Qiuxia - Monogenic causes are increasingly recognized in end-stage kidney disease (ESKD), but the real-world diagnostic efficacy of exome sequencing in unselected dialysis cohorts is still being defined. - Source: PubMed
Publication date: 2026/01/19
Liu Zhi-YingZhang Ya-LingLi YangHan Jing-FangSong Zhuo-RanZhang Jia-YiQu Ting-HuiXu RongZhang HongChen Xiao-LiZhou Xu-Jie Introduction: Coenzyme Q8B (COQ8B) nephropathy is an autosomal recessive hereditary disorder caused by primary coenzyme Q10 (CoQ10) deficiency. It manifests as a genetic steroid-resistant nephrotic syndrome (SRNS), typically of childhood-onset. CoQ10 supplementation is a treatment option; however, it is not always effective in an entire patient population, leading to end-stage kidney disease. Kidney transplantation (KTx) is an effective treatment option for genetic SRNS; however, living KTx within biologically related members is associated with increased risk of allograft failure in recipients and future kidney dysfunction in donors. Here, we present two successful cases of living kidney donations from heterozygous carrier parents to their siblings with COQ8B nephropathy. Case Presentation: The family comprised two parents and three siblings. Two of the daughters were diagnosed with proteinuria at 11 and 8 years of age, respectively. COQ8B nephropathy diagnosis was confirmed by next-generation and Sanger sequencing analysis, which revealed a novel compound heterozygous mutation in the COQ8B gene (c.737G>A and c.1468C>T). An older sister missed an opportunity for CoQ10 supplementation due to late diagnosis, whereas a younger sister did not respond to CoQ10 supplementation. Living kidney donation from father to the older sister and from mother to the younger sister was successfully performed without post-transplant recurrence in recipients or kidney dysfunction in donors within 5 and 2 years of follow-up. Conclusion: Parent-to-child KTx may be an effective treatment option within family members affected with COQ8B nephropathy.
. - Source: PubMed
Publication date: 2025/12/18
Morita KeisukeNakanishi RisaOgura KikunoShinzato TakahiroMatsuo KenTanaka SatoshiMatsumoto MinamiYamamoto ShinyaKitayama HirotsuguNagano ChinaNozu KandaiNagai Kojiro