Ask about this productRelated genes to: CYP4V2 antibody
- Gene:
- CYP4V2 NIH gene
- Name:
- cytochrome P450 family 4 subfamily V member 2
- Previous symbol:
- -
- Synonyms:
- CYP4AH1
- Chromosome:
- 4q35.1-q35.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-07-05
- Date modifiied:
- 2018-02-13
Related products to: CYP4V2 antibody
Related articles to: CYP4V2 antibody
- To evaluate the safety and preliminary functional outcomes of NGGT001 gene therapy across dose cohorts in adults with Bietti crystalline dystrophy (BCD) with relatively preserved vision. - Source: PubMed
Publication date: 2026/05/31
Chen XiujuYang LinWang GangLiu YitingQu GuangJiang LixinLiu YongLi Xiaoxin - Bietti crystalline dystrophy (BCD) is a rare chorioretinal dystrophy associated with mutations in the CYP4V2 gene, characterized by intraretinal crystalline deposits and progressive chorioretinal degeneration. Retinal vein occlusion (RVO) is exceedingly rare in BCD, with only one previously reported case of tributary RVO without a detailed clinical description. We hereby describe a 44-year-old man with genetically proven stage 2 BCD who developed right central RVO (CRVO) eight years following the initial diagnosis in 2013. Though he did not notice any new visual disturbance in the right eye, routine fundus examination revealed subtle peripheral microvascular abnormalities and intraretinal small hemorrhages 360 degrees in 2021, and fluorescein angiography demonstrated nearly 360-degree peripheric nonperfusion with scattered microaneurysms, consistent with the diagnosis of ischemic CRVO. Four years later, the patient developed peripheric retinal neovascularizations and a small preretinal hemorrhage in his right eye that was managed solely with scatter laser photocoagulation. Unlike a previously reported case with retinitis pigmentosa and CRVO, in which neovascular complications did not arise, most likely due to extensive peripheral chorioretinal atrophy related to low VEGF levels, our case exhibited less peripheral chorioretinal atrophy; therefore, peripheral ischemia led to the development of retinal neovascularizations. Patients with BCD may not perceive peripheral retinal alterations due to their already compromised central vision; therefore, regular clinical visits seem beneficial to detect potential fundus changes promptly, as demonstrated in the present case. - Source: PubMed
Publication date: 2026/04/15
Ali HamitKocabey MehmetAyhan ZiyaCaglayan Ahmet OkaySaatci Ali Osman - Bietti crystalline dystrophy (BCD) is a hereditary retinal disease caused by loss-of-function mutations in the gene. Gene replacement therapy using rAAV-hCYP4V2 represents a promising therapeutic strategy, requiring robust bioassays for product quality control. This study developed and validated a sensitive LC-MS/MS method for quantifying CYP4V2 enzyme activity. Lysates from HeLa-AAVR cells transduced with rAAV-hCYP4V2 (MOI = 3 × 10) were used, with lauric acid as substrate supplemented with cytochrome P450 reductase, cytochrome b5, and NADPH. The ω-hydroxylated product (12-hydroxy lauric acid) was quantified using tolbutamide as an internal standard. Method validation followed ICH guidelines. Results demonstrated excellent specificity with negligible background in negative controls. Linearity was achieved over 0.5-100 ng/mL ( > 0.99), with an average recovery of 100.6%. Intra-batch and inter-batch precision RSDs were <47.8% and <28.4%, respectively. Product stability was maintained for ≥4 weeks at -80°C. The method was successfully applied to three AAV serotypes (AAV2, AAV8, and AAV2/8), with all RSDs < 23.9%. This validated LC-MS/MS bioassay provides a crucial quality control tool for potency assessment, process development, batch release, and stability studies of rAAV-hCYP4V2 gene therapy products. - Source: PubMed
Publication date: 2026/04/24
Ren GeQin XiLi YiranFan WenhongLuo WenjingCao YanrongWang YangZhou YongLiang Chenggang - is a globally invasive perennial herb that poses a significant threat to biodiversity. However, recent studies highlight its potential for ecological utilization, demonstrating antibacterial, anti-inflammatory, and insecticidal properties. Research on its effect on eggs and the underlying molecular mechanisms remains limited. This study investigated the impact of aqueous extract on egg development and explored key responsive pathways and genes via RNA sequencing (RNA-Seq). eggs were treated with various concentrations (0.10%, 0.25%, 0.50%, 1.00%, 2.50%, 5.00%) of the extract. Embryonation rates decreased dose-dependently, with the 5.00% treatment showing the strongest inhibition (34.24%). Eggs treated with 2.50% and 5.00% extract caused significantly less severe pulmonary lesions and lower larval counts in infected mice, indicating reduced infectivity. Transcriptome analysis of control (WH), 0.10% (EH), and 0.50% (MH) treated eggs identified 281 and 1,083 differentially expressed genes (DEGs) for EH vs. WH and MH vs. WH, respectively. GO and KEGG enrichment analyses revealed that DEGs were primarily involved in transmembrane transport, catalytic activity, carbohydrate metabolic processes, the drug metabolism-cytochrome P450 pathway, and glycolysis/gluconeogenesis. Key genes, including CYP44A1, CYP4V2, CYP4C3, and GST-4, were significantly downregulated. qRT-PCR validated the RNA-Seq results. These findings suggest that extract inhibits egg development, potentially by disrupting energy metabolism and xenobiotic detoxification pathways. This study provides a theoretical basis for developing -based agents targeting the egg stage of . - Source: PubMed
Publication date: 2026/04/22
Wang LuyangWang WenyaHe JunjunShu FanfanMa JunYang JianfaZou Fengcai - BACKGROUND: The global incidence of early-onset ischemic stroke (EOS) is rising, with younger patients showing marked heterogeneity and lacking traditional risk factors, underscoring the role of undiscovered genetic determinants. The neurovascular unit (NVU) is central to cerebral homeostasis, yet whether its functional alterations contribute to ischemic stroke susceptibility remains unclear. Defining the NVU’s genetic architecture is therefore crucial for elucidating pathogenic mechanisms and advancing therapeutic discovery. METHODS: We integrated single-nucleus RNA-seq–based expression quantitative trait loci (eQTL) from healthy brain tissue with GWAS from the EOS Consortium. Mendelian randomization (MR), Bayesian colocalization, and Steiger filtering were applied to infer causal effects of NVU cell-type–specific gene expression on EOS. Cross-ancestry validation and PheWAS were conducted to assess robustness and pleiotropy. For translational insights, in silico drug screening, drug–disease MR, and molecular simulations were performed. RESULTS: MR analysis identified two NVU-resident genes—CYP4V2 in excitatory neurons and ANXA11 in astrocytes—as significantly associated with EOS. Both showed strong colocalization and consistent directionality, with cross-ancestry validation prioritizing CYP4V2 as a robust candidate. PheWAS revealed no major pleiotropic effects. Evidence from CYP4V2 knockout mice revealed neurological and metabolic abnormalities, supporting its biological relevance to ischemic stroke susceptibility. Combined drug screening, genetic evidence, and molecular stability analyses prioritized methotrexate as the most promising candidate. CONCLUSIONS: This study maps the genetic architecture of NVU cells and highlights their role in EOS susceptibility. We identified CYP4V2 as a causal gene and a pharmacologically tractable target. These findings provide a translational framework linking NVU dysfunction to ischemic stroke risk and inform future precision medicine strategies. - Source: PubMed
Publication date: 2026/04/25
Xu Qiu-HanChai Zhao-HuiZhang Yu-NingShen Jian