Ask about this productRelated genes to: TMEM126B Blocking Peptide
- Gene:
- TMEM126B NIH gene
- Name:
- transmembrane protein 126B
- Previous symbol:
- -
- Synonyms:
- HT007
- Chromosome:
- 11q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-02-13
- Date modifiied:
- 2016-06-16
Related products to: TMEM126B Blocking Peptide
Related articles to: TMEM126B Blocking Peptide
- Graphical abstract illustrating the clinical presentation, molecular mechanism, and diagnostic implications of biallelic TMEM126B variants associated with progressive kidney disease. The case involved a 47-year-old male with childhood exercise intolerance, possible hypertrophic cardiomyopathy, and progressive kidney failure. Initial comprehensive inherited kidney disease panel testing was nondiagnostic; subsequent updated exome sequencing identified a homozygous TMEM126B variant (c.635G>T; p.Gly212Val). TMEM126B encodes a mitochondrial complex I assembly factor, and pathogenic variants impair complex I assembly and mitochondrial function, contributing to multisystem disease including exercise intolerance, kidney disease and cardiomyopathy. The case highlights the expanding phenotypic spectrum associated with TMEM126B and the importance of periodic gene panel updates and systematic reanalysis to improve diagnostic yield and patient care. - Source: PubMed
Publication date: 2026/06/25
Hammond SarahConnaughton Dervla M - This study aimed to identify lactylation-associated genes linked to immune infiltration and diagnostic potential in neuropathic pain using integrated bioinformatic and machine learning approaches. Two microarray datasets (GSE124272 and GSE150408) comprising peripheral blood transcriptomes from 25 NP patients and 25 healthy controls were obtained from the gene expression omnibus. After batch correction and merging, the combined dataset served as the training set. Differentially expressed genes overlapping with lactylation-related gene sets were identified. Functional enrichment analyses, including gene ontology and Kyoto encyclopedia of genes and genomes pathway analyses, were performed. A protein-protein interaction network was constructed. Three machine learning algorithms-least absolute shrinkage and selection operator, support vector machine recursive feature elimination, and random forest-were applied to identify robust diagnostic gene signatures. Subsequently, the candidate biomarkers were validated using an independent test set (GSE95849). A diagnostic nomogram was developed, and regulatory networks were analyzed. Immune infiltration analysis was conducted via cell-type identification by estimating relative subsets of RNA transcripts. Functional analyses indicated involvement of pathways such as glucagon signaling, thermogenesis, and mitochondrial inner membrane function. Machine learning-identified 5 diagnostic gene candidates: CYP27A1, ELAC2, TMEM126B, LYRM7, and PHKB. Among these, CYP27A1 and PHKB were further investigated in an independent test set. Immune infiltration analysis showed significant alterations in 19 immune cell types, with CYP27A1 and PHKB closely correlated with immune cell distribution. This study identified CYP27A1 and PHKB as potential lactylation-associated biomarkers for NP, offering new insights into its pathogenesis and a theoretical basis for improved diagnosis. - Source: PubMed
Wu WenhuiYang Denghao - The cause of kidney failure (KF) often remains undetermined despite extensive diagnostic efforts. Given that genetic kidney diseases are underdiagnosed, we conducted a cross-sectional study to investigate the prevalence in patients with KF of undetermined etiology (uKF) using multifaceted genetic screening. - Source: PubMed
Publication date: 2025/09/04
Granhøj JeffAagaard Mads MPedersen Katja VLildballe Dorte LØrskov BjarneTougaard Birgitte GPausgaard Rasmus HBrusgaard KlausSvenningsen PerBirn HenrikRasmussen Maria - This study utilized a comprehensive approach by integrating multi-omics data to systematically assess lactate modification levels across diverse cell types employing AUCell, JASMINE, and singscore algorithms. An epithelial subpopulation exhibiting the highest lactylation score was successfully pinpointed, and differentially expressed genes linked to lactylation were identified. Through machine learning techniques, a prognostic model was developed based on three genes (TMEM126B, PYGL, and NDUFS6). This model displayed significant associations with immune tumor microenvironment characteristics, microsatellite instability, immune checkpoint expression, and tumor mutation burden. Elevated lactylation risk was linked to the activation of cell cycle and oncogenic pathways, dampened anti-tumor immune responses, and increased expression of immune checkpoints, indicating potential limitations in immunotherapy efficacy. Noteworthy, NDUFS6 exhibited significant upregulation in ovarian cancer (OC) tissues and correlated with an unfavorable prognosis. Functional investigations demonstrated that NDUFS6 knockdown suppressed OC cell proliferation and induced cell cycle arrest. Remarkably, D-lactose emerged as a promising therapeutic agent targeting NDUFS6, underscoring its potential for precise OC treatment. - Source: PubMed
Publication date: 2025/11/20
Li XiushenChen XuxiangLin SailingYang XiangyuWu WenhaoChen XiaoyongBao LiqinFang QiongfangFan LijunZhang QiMa JingxinZhu GuliYang DequanWu XueqingCheng Zhaorui - Reproductive and growth traits are key economic traits in sheep. This study aims to identify key single nucleotide polymorphisms (SNPs) and candidate genes associated with reproductive and growth traits in Tianmu polytocous sheep through a genome-wide association study (GWAS). The findings are expected to provide both a theoretical foundation for molecular breeding in this breed and novel insights into the genetic basis of ovine reproductive and growth performance. This study took 483 adult Tianmu polytocous ewes as the research subjects, collected their lambing records, measured their phenotypic values of growth traits (3 weight and 11 body size traits), and collected their blood samples for whole-genome resequencing to identify SNPs in the Tianmu polytocous sheep genome. The results identified a total of 9,499,019 (3× coverage) and 27,413,216 (30× coverage) high-quality SNPs in the Tianmu polytocous sheep genome. Subsequently, the association analysis between SNPs and reproductive and growth traits was conducted using a mixed linear model. A total of 92, 66, 18, 28, 6, 42, 3, 3, 6, 1, 12, 3, 22, 8, 6, and 3 SNPs were found associated with litter size at first parity, litter size at second parity, litter size at third parity, litter size at fourth parity, birth weight, weaning weight, body height, withers height, body length, head length, head width, cannon bone circumference, forelimb height, chest girth, chest depth, and withers width, respectively. Further, based on SNP annotation, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, candidate genes associated with the reproductive and growth traits were identified. Among these genes, 11 , , , , , , , , and are candidate genes associated with litter size at first parity or litter size at third parity. These genes are involved in the G protein-coupled receptor signaling pathway, G protein-coupled receptor activity, ovarian tissue development, and hormone secretion. Additionally, and are candidate genes associated with birth weight, while five and are candidate genes associated with weaning weight. These candidate genes are primarily involved in lipid metabolism. Finally, the following genes were identified as candidates associated with specific traits: , , and with body height; and with body length; with cannon bone circumference; four genes with forelimb height; with chest depth; and with withers width. - Source: PubMed
Publication date: 2025/10/20
Liu WennaMa ShengchaoLu QingweiTang SenMamat NuraminaWang YaqianHong WeiHu XiangrongWu CuilingFu Xuefeng