Ask about this productRelated genes to: RDH12 antibody
- Gene:
- RDH12 NIH gene
- Name:
- retinol dehydrogenase 12
- Previous symbol:
- -
- Synonyms:
- FLJ30273, SDR7C2, LCA13, RP53
- Chromosome:
- 14q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-12-11
- Date modifiied:
- 2018-02-09
Related products to: RDH12 antibody
Related articles to: RDH12 antibody
- The RDH12 gene encodes a retinal dehydrogenase enzyme critical for visual pigment regeneration. Peripheral blood mononuclear cells (PBMCs) were isolated from a 28-year-old patient harboring a homozygous nonsense mutation c.193C > T, p.R65X in RDH12. These cells were reprogrammed into an induced pluripotent stem cell (iPSC) line using episomal plasmids expressing the human reprogramming factors OCT4, SOX2, NANOG, LIN28, KLF4, and L-MYC. The established iPSC line demonstrated a normal karyotype, expressed canonical pluripotency markers, and possessed the capacity to differentiate into derivatives of all three germ layers in vitro. - Source: PubMed
Publication date: 2026/04/15
Yu Si-JianJin Zi-BingLiu Wu - Inherited retinal dystrophies (IRDs) are a leading cause of visual impairment and irreversible blindness worldwide, yet their precise molecular and genetic mechanisms remain unclear. N-1ent. In the mammalian retina, mA methylation is widely distributed in various cellular layers and is essential for retinal homeostasis. In this study, we assessed the in vivo roles of WTAP, a crucial component of the mA methyltransferase complex, in the mammalian retina and demonstrated that loss of Wtap led to diminished scotopic ERG responses, progressive retinal degeneration, and significant loss of rod cells in mice. Wtap deficiency drastically reduced global mA levels in the retina due to abolished WTAP-mediated stability of the methyltransferase complex. Mechanistically, absence of WTAP disrupts mA modification of phototransduction-related genes and specifically causes the epigenetic silencing of PDE6B, REEP6, and RDH12. Detailed analysis further revealed that WTAP facilitated the translation of Reep6, Pde6b, and Rdh12 through modulating mA deposition in 3'UTR of mRNAs. Moreover, reintroduction of WTAP in affected retinas, through crossing with CAG-Wtap mouse line or AAV-mediated gene therapy, partially restored expression of PDE6B, REEP6, and RDH12 and finally mitigated retinal degeneration. Collectively, our study highlights critical roles of WTAP in photoreceptor function and survival, thus providing novel therapeutic strategies for IRDs. - Source: PubMed
Publication date: 2026/03/04
Sun KuanxiangZhang LinLiu WenjingChen CanHe JiajieCai JinruiJiang XiaoyanYang YemingYang ZhenglinZhu Xianjun - A human induced pluripotent stem cell (hiPSC) line BTHBIOi006-A was generated from peripheral blood mononuclear cells of a patient carrying RDH12 biallelic mutations via episomal reprogramming. The line exhibits a normal karyotype, expresses pluripotent markers, differentiates into three germ layers, and is mycoplasma-free, serving as a tool for retinal disease research. - Source: PubMed
Publication date: 2026/02/18
Zhang Zhi-HanZhang Xiao-HuiJin Zi-Bing - Gene replacement therapy can be used for the treatment of hereditary retinopathies, such as retinol dehydrogenase 12 (RDH12)-associated Leber congenital amaurosis 13 (LCA13); however, the lack of animal models accurately mimicking the human disease phenotype requires the initial in vitro confirmation of therapy efficacy. Two synthetic serotypes (2.7m8 and PHP.S) of adeno-associated virus (AAV) were tested against the natural serotypes (5 and 9) with the aim of increasing the transduction efficiency and delivery of the green fluorescent protein (GFP) in HEK293 and ARPE-19 cells. The three most efficient serotypes were then used for the delivery of RDH12, followed by the assessment of its functional activity in the transduced cells. In the in vitro test system, a cassette encoding GFP and the wild-type (wt) RDH12 was delivered into ARPE-19 and HEK293 cells by rAAV 5, PHP.S, and 7m8 at 30K and 60K VG/cell. RDH12 mutants pThr155Ile (RDH12mut) and Met1* (RDH12sc) were used to mimic the RDH12-associated pathology. Transduction efficiency and protein expression were assessed by flow cytometry, fluorescence microscopy, and Western blotting. Percentages of AAV7m8-transduced GFP+ cells 1.5- and 6.4-times higher were observed as compared to AAV5 and AAV.PHP.S, respectively. 4-hydroxynonenal (4-HNE), more toxic to the cells with dysfunctional RDH12, was used on cells expressing the three RDH12wt versions. Following treatment with 100 μM 4-HNE, 2.6 (AAV5) and 8.8 (AAV7m8) times more cells co-expressing RDH12wt and GFP were alive as compared to the cells expressing only GFP. The number of live RDH12wt-expressing cells was also 32 and 9.6 times higher than that of RDH12sc-expressing cells and the negative control (NC), respectively. The developed approach enables the functional assessment of RDH12 replacement therapy only in rAAV-transduced cells and demonstrates that rAAV7m8 is the most efficient serotype for this purpose. - Source: PubMed
Publication date: 2026/01/29
Pavlova PolinaAverina MarinaGurtsieva DzerassaGalieva AlimaIvanov Roman AKarabelsky AlexanderMinskaia Ekaterina - Decabromodiphenyl ethane (DBDPE), as the novel brominated flame retardant, has been frequently detected in aquatic environments worldwide and has been confirmed to be harmful to aquatic organisms. Previous studies have mostly inferred potential damage to specific organs based on abnormal behaviors in zebrafish, but the multi-organ cross-toxicity of DBDPE and its underlying mechanisms remain to be elucidated. In this study, zebrafish (Danio rerio) embryos were exposed to DBDPE at concentrations of 5, 50, and 500 μg/L for 120 h. The results showed that DBDPE impaired embryonic development, causing cardiotoxicity, neurotoxicity, and visual toxicity. DBDPE induced excessive production of reactive oxygen species (ROS), accumulation of malondialdehyde (MDA), and depletion of glutathione (GSH), which in turn triggered phosphatidylethanolamine (PE) accumulation and ferroptosis-related proteins (ceruloplasmin, heme oxygenase 1, and autophagy-related protein 5) downregulation, accompanied by cardiac developmental abnormalities such as pericardial edema, increased heart rate, and prolonged sinoatrial-atrioventricular (SV-BA) distance. Beyond its cardiac effects, DBDPE exposure induced distinct neurotoxicity, including anxiety and aggression. Mechanistically, DBDPE directly interfered with lysophosphatidylcholine (LysoPC) metabolism and disrupted the normal localization of metabotropic glutamate receptor 5 (mGluR5), leading to neurobehavioral abnormalities. In addition, the phenomenon of ocular protrusion may be related to abnormal expression of retinol dehydrogenase 12 (RDH12) and glucuronosyltransferase (UGT1B2), key factors in retinol metabolism. This study firstly showed that DBDPE's multi-organ developmental toxicity is driven by an interconnected metabolic-protein network, which not only significantly advances the understanding of the complex toxic mechanisms of DBDPE, but also lays a solid scientific foundation for accurate environmental risk assessment and early health warning of such emerging pollutants. - Source: PubMed
Publication date: 2026/01/12
Zhang RuiyangZhang YueXue JinglongZhang RuxuanXie JunhongLuo XinyueYang XiWang HongouLiu JianhuiWei JialiuZhou Xianqing