Ask about this productRelated genes to: PHACTR1 antibody
- Gene:
- PHACTR1 NIH gene
- Name:
- phosphatase and actin regulator 1
- Previous symbol:
- RPEL1
- Synonyms:
- KIAA1733, dJ257A7.2
- Chromosome:
- 6p24.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-19
- Date modifiied:
- 2018-11-16
Related products to: PHACTR1 antibody
Related articles to: PHACTR1 antibody
- Optical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental epileptic encephalopathies (DEEs) with unresolved genetic causes. - Source: PubMed
Publication date: 2026/04/16
Yilmaz SanemAvci Durmusalioglu EniseToprak Dogan Dilara EceKanmaz SedaAtik TahirMutlu Mehmet BurakYiş UluçYilmaz UnsalUnalp AycanGökben SarenurBaş HasanRostamlou ArmanGunel Nur SelviGunduz CumhurTekgul HasanIsik Esra - Pyroptosis, an inflammatory form of programmed cell death, contributes to intestinal inflammation in inflammatory bowel disease (IBD), but the key cell types and regulatory genes remain unclear. - Source: PubMed
Publication date: 2026/02/04
Lu YaoLin YahuiLi YuansenSai HuanChen ChengLi Jinjiao - Non-alcoholic fatty liver disease (NAFLD), recently retermed as metabolic dysfunction-associated steatotic liver disease (MASLD), and intervertebral disc degeneration (IVDD) are major health burdens with rising prevalence. Despite affecting different organ systems, emerging evidence suggests potential molecular crosstalk between these conditions. However, the underlying mechanisms remain poorly understood. - Source: PubMed
Publication date: 2026/01/26
Wang GuohaoLiu YongmingShen Xingchao - Genetic studies have linked PHACTR1 to a range of vascular diseases, underscoring its pivotal role in vascular biology. However, the full spectrum of PHACTR1-mediated signaling pathways remains largely unexplored. To bridge this gap, we employ a multi-omics pipeline combining pairwise differential expression analysis, multi-omics pathway integration, and feature-level correlation analyses across four distinct omics datasets to map the global signaling networks driven by PHACTR1. By integrating transcriptomic, proteomic, metabolic, and lipidomic profiles from human HT1080 cells with PHACTR1 overexpression or knockdown, and then validating key findings in primary human endothelial cells, here we show that PHACTR1 exerts broad control over fundamental cellular processes beyond cytoskeletal regulation. We demonstrate that PHACTR1 governs cell cycle progression, validating that increased expression alters key regulatory proteins. We also uncover a distinct function in iron metabolism, showing PHACTR1 regulates essential cellular iron-storage proteins and identify the PHACTR1 protein within the mitochondria where it directs morphology and bioenergetics through a signaling axis involving AKAP1 and Drp1. These mitochondrial changes align with observed shifts in lipid metabolism and correlations in human arterial tissue. These findings provide a systems-level blueprint of PHACTR1 function, revealing how this gene influences vascular health and offering potential targets for therapeutic intervention. - Source: PubMed
Publication date: 2026/01/19
Wolhuter KathrynMa LijiangBryce Nicole SContreras OsvaldoMellett NatalieZhong LingThekkedam ChrisIismaa Siiri EGiles CoreyHarvey Richard PHennessy ThomasFouracre ChrisBradley DavidMeikle Peter JBjörkegren Johan L MKovacic Jason C - Athletic performance results from complex interactions between genetic and environmental factors. This review compiles and synthesizes available literature on polymorphic genes associated with endurance, power, and strength performance, as well as their links to injury susceptibility and chronic metabolic diseases. Endurance performance is modulated by , , , , , , and , regulating mitochondrial biogenesis, oxygen utilization, and muscle fiber composition. Power performance involves , , , , , and , affecting anaerobic metabolism, lactate clearance, and fast-twitch fiber recruitment. Strength performance is influenced by , , , , , , and , related to androgen signaling, muscle hypertrophy, and recovery. Injury-related genes (, , , , ) and metabolic risk genes (, , ) further highlight the clinical relevance of genomics. Collectively, these insights support the application of genetic information to personalize training, enhance performance, prevent injuries, and guide exercise interventions to mitigate metabolic disease risk. - Source: PubMed
Publication date: 2025/11/01
Imperatore AntonioMennitti CristinaDe Fonzo GiuliaAmitrano RaffaeleGentile AlessandroCalvanese MariellaIafusco FernandaCoppola SerenaDigno MattiaBorrelli PaolaLombardo BarbaraFrisso GiuliaBerni Canani RobertoTinto NadiaD'Argenio ValeriaScudiero Olga