Ask about this productRelated genes to: PECR antibody
- Gene:
- PECR NIH gene
- Name:
- peroxisomal trans-2-enoyl-CoA reductase
- Previous symbol:
- -
- Synonyms:
- HSA250303, TERP, SDR29C1
- Chromosome:
- 2q35
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-09
- Date modifiied:
- 2014-11-19
Related products to: PECR antibody
Related articles to: PECR antibody
- Amelogenesis Imperfecta (AI) is a group of rare hereditary conditions characterized by quantitative and/or qualitative enamel defects affecting both primary and permanent dentitions. Among the more than 70 genes associated with AI, FAM83H is the only gene known to cause autosomal dominant hypocalcified AI (ADHCAI). Recent studies have shown that causative variants in FAM83H disrupt amelogenesis and may also affect dental follicle cells, potentially leading to tooth impaction in ADHCAI patients. Here, we report two unrelated Brazilian patients with ADHCAI who present a distinctive and severe phenotype characterized by delayed eruption, multiple impacted teeth, and pre-eruptive crown resorptions (PECR). Longitudinal radiographic analysis revealed multiple unerupted teeth with progressive PECR. Using whole-exome sequencing, we identified two nonsense heterozygous FAM83H causative variants (c.1055 C > A, p.Ser352*; c.1379G > A, p.Trp460*). Our findings represent the first report of FAM83H-related ADHCAI in Brazilian families and expand both the phenotypic spectrum and clinical severity associated with this gene. The presence of widespread PECR and adjacent bone alterations suggests that FAM83H dysfunction may affect not only enamel formation but also tooth eruption pathways and local tooth-bone interactions. This study highlights the importance of early diagnosis, individualized radiographic follow-up, and genetic testing to guide counselling and clinical management of affected individuals. - Source: PubMed
Publication date: 2026/05/04
Resende Kemelly KarollinyAmorim Luanna de Sousade Paula Lilian MarlyLeite André FerreiraMazzeu Juliana ForteYamaguti Paulo MarcioAcevedo Ana Carolina - As an elite indigenous poultry breed under national protection in China, the Xupu goose is renowned for its large body size, superior fatty liver production, premium meat quality, and high tolerance to roughage. To elucidate its genomic architecture, genetic diversity, and evolutionary selection signatures, we conducted whole-genome resequencing on 15 purposively selected, unrelated male Xupu geese. An average of 6.79 Gb of high-quality sequence data was generated per individual, yielding approximately 4.27 million single-nucleotide polymorphisms (SNPs) with a transition/transversion (Ti/Tv) ratio of 2.49. Population genomic analyses revealed that while the population retains a moderate genetic reservoir ( = 0.298), it exhibits a distinct heterozygote deficit ( = 0.217) and a moderate genomic inbreeding coefficient = 0.204). This structural pattern underscores the genetic impact of historical ex situ closed-flock conservation and the consequent formation of cryptic family lineages. Furthermore, genome-wide integrated haplotype score (iHS) scans detected distinct regions under recent positive selection. Functional annotation of these regions highlighted candidate genes tightly associated with the breed's hallmark traits, specifically lipid metabolism and hepatic fat deposition (, , ), alongside muscle development (, , ). Conclusively, this study delineates a comprehensive genomic landscape of the Xupu goose, providing a robust foundational resource for future germplasm conservation, molecular marker development, and precision breeding programs. - Source: PubMed
Publication date: 2026/03/17
Zhu KairuiAi ZhenkangCai YuchunLi YonghaoCheng YuhangZhang YangZhao WenmingChen Guohong - Sarcopenia is an ageing-related disease characterised primarily by skeletal muscle functional decline. Despite of fatty acid metabolism (FAM) affecting oxidative stress within muscle tissue, the key roles of critical genes linking FAM and sarcopenia are unclear. The GSE8479, GSE1428, and GSE136344 datasets were downloaded and intersected for identifying FAM-related differentially expressed genes (FAMRDEGs) screened by enrichment analysis, LASSO regression, and Support Vector Machine (SVM) analyses. Cytoscape software was used for visualising mRNA-transcription factor (TF) and mRNA-miRNA networks. In addition, ROC curves of key genes were plotted to evaluate their diagnostic significance. A Fatty Acid Metabolism Score (FAM-Score) was conducted and immune cell infiltration analysis was conducted. The qPCR assay was performed to analyse the levels of screened critical genes. A total of 109 FAMRDEGs were obtained, and the LASSO regression and SVM models screened 14 of these genes. The network included 7 key genes with 54 miRNAs and 9 hub genes with 102 TFs. There were 6 types of immune cell infiltration showing statistical significance. The FABP3 (P < 0.001), PECR (P < 0.01), and OPN3 (P < 0.001) mRNA expression markedly increased in sarcopenia versus control groups. In contrast, sarcopenia group showed remarkably reduced PCTP (P < 0.001), SREBF2 (P < 0.001), and PPARGC1A (P < 0.05) levels. This study provides reference indicators for FAM-associated auxiliary biomarkers of sarcopenia and preliminarily establishes effective machine learning models for further mechanistic exploration. - Source: PubMed
Yang RuopengGu ShanLi YangXia Ping - High fat diet (HFD) induces glomerulopathy and proximal tubule injury. The precise pathophysiological mechanisms triggering obesity-related kidney impairment remain elusive, especially after dietary correction. Male C57BL6/J mice (n = 15) were divided in: control group (CTR) fed with standard chow; a group fed with HFD for 200 days (28-29 weeks); and a group fed with HFD for 60 days (8-9 weeks) and then with standard chow (HFDt)(∼21 weeks). Biometric data and whole-body metabolism were assessed. Expression of genes associated with mitochondrial dynamics, mitochondrial complexes and antioxidant defenses were analyzed. Kidney homogenates enriched in mitochondria were prepared and characterized by mass spectrometry-based proteomics. Kidney tissue of mice fed HFD exhibited reduced PGC-1α expression, an imbalance between fusion (increased MFN1 and decreased OPA1) and fission (decreased FIS1 and DRP1) processes. The activity of mitochondrial complex I (CI) was increased, while activity of complex II (CII) was decreased in the kidney after HFD and HFDt. Antioxidant defense Manganese Superoxide dismutase (MnSOD) was decreased in the kidney of HFD, while Glutathione reductase (GR) increased, with both activities being restored upon dietary reversion. Proteomic analysis showed alterations in proteins associated with glutathione and glycine metabolism, fatty acid oxidation (FAO), and peroxisomal function. HFD negatively impacted kidney glutathione related proteins (Gsta3 and Gsr); however dietary correction reverted this condition. Acsm3 protein was downregulated in kidney after HFD and upregulated after dietary correction. Some machinery is shared by mitochondria and peroxisomes, with their network being crucial particularly under stress conditions. A HFD impaired kidney FAO in peroxisomes, as evidenced by downregulation of Pecr after HFD and HFDt. Dietary correction after early-obesity mitigates the systemic metabolic dysfunction and can attenuate mitochondria dysfunction but is unable to completely restore mitochondria dynamics and bioenergetics. The results highlight the integrity of mitochondrial network as a main point for targeted therapeutic strategies aimed at preventing the progression of kidney disease. - Source: PubMed
Publication date: 2025/08/05
Braga Patrícia CVitorino RuiFerreira RitaMarques MarianaOliveira Pedro FRodrigues Anabela SAlves Marco G - Lactylation, a novel post-translational modification, has been implicated in various pathophysiological processes; however, its role in sepsis-associated acute kidney injury (SA-AKI) remains unclear. This study aimed to investigate the expression patterns and potential functional roles of lactylation-related genes (LRGs) in SA-AKI using transcriptomic data from the GSE232404 dataset. A total of 118 differentially expressed LRGs were identified, enriched in pathways related to RNA splicing, histone deacetylation, and carbon metabolism pathways. Immune infiltration analysis revealed significant alterations in macrophages M0, neutrophils, and T cell subtypes. Consensus clustering-based molecular subtyping stratified SA-AKI samples into two distinct clusters, each characterized by unique immune landscapes and enrichment in cytokine signaling pathways. Weighted gene co-expression network analysis (WGCNA) identified the darkseagreen3 module as highly correlated with these subtypes. Subsequent machine learning analyses, incorporating Lasso regression and random forest algorithms, identified PECR and TP53I3 as key LRGs. Transcription factor enrichment analysis further suggested motif cisbp__M1413 as a potential upstream regulator. Single-cell RNA sequencing (scRNA-seq) analysis revealed PECR and TP53I3 were predominant expression in proximal tubule and Loop of Henle cells, with significant correlations to lactylation-related pathways. This comprehensive analysis finds the potential roles of LRGs in SA-AKI pathogenesis, particularly their association with immune regulation and cell-type specificity. The identified of PECR and TP53I3 provides new insights into the molecular mechanisms of SA-AKI and may inform the development of targeted therapeutic strategies. - Source: PubMed
Publication date: 2025/06/12
Jiang KuiMai ShujuanLi JianZhou HongxingChen YuZou LeyuanYu Huixia