Ask about this productRelated genes to: SLC25A12 Blocking Peptide
- Gene:
- SLC25A12 NIH gene
- Name:
- solute carrier family 25 member 12
- Previous symbol:
- -
- Synonyms:
- Aralar
- Chromosome:
- 2q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-01-28
- Date modifiied:
- 2016-10-05
Related products to: SLC25A12 Blocking Peptide
Related articles to: SLC25A12 Blocking Peptide
- Lactylation modification serves as a critical link between metabolic reprogramming and epigenetic regulation, playing a significant role in the progression of both malignant tumors and inflammatory diseases. Nevertheless, its specific function in the pathogenesis of ulcerative colitis (UC) remains poorly understood. - Source: PubMed
Publication date: 2026/03/11
Liu JianKang XiaoyunZhou YanxiangLi Jiao - With the rapid development of genomic big data and genome-wide association study technologies, massive genomic data are available for the genetic dissection, development and utilization of important economic traits. Various GWAS algorithms have become increasingly efficient, enabling high-performance processing of these massive datasets. This has made it possible to conduct genetic dissection of economic traits based on big data and advanced statistical methods, which will provide accurate target loci for future trait improvement and genetic manipulation, greatly accelerating the process of genetic breeding. In this study, genotyping of 426 fish was performed using the T7 sequencing platform and 555,242 SNPs distributed across all the chromosomes were screened by data cleaning. We compared the performance of two GWAS methods, GCTA and GEMMA, in both single-trait and multi-trait frameworks. Twenty-nine SNPs significantly associated with seven traits were identified through single and multi-trait combined GWAS. Single-trait GWAS analysis using GCTA identified 1047 and 1452 significant loci for six growth traits and one sex trait (phenotypic sex, male or female) respectively, ultimately revealing 10 candidate genes, including , , , , , , , , , and . Similarly, 671 and 642 significant SNPs were detected with GEMMA for single-trait GWAS associated with six growth traits and the sex trait, respectively. In total, 16 candidate genes were mapped for these seven traits. Multi-trait GWAS was also performed using GEMMA for the six growth traits (sex was included as a covariate). The traits were grouped into five combinations based on their genetic correlations. A total of 37 SNPs were identified, corresponding to 10 candidate genes: , , , , , , , , , and . Notably, five overlapping candidate genes (, , , and ) were also identified in both single- and multi-trait GWAS methods of GEMMA, highlighting their genetic stability and significance. The two GWAS methods, GCTA and GEMMA, identified two genes that were the same. The results of this study provide molecular markers and genetic resources for the improvement of growth traits in . - Source: PubMed
Publication date: 2026/02/20
Chang ZhongyuChen AoLiang ShuoMa ChenlingZhou TaoZhao YunfengJiang Li - The mitochondrial aspartate-glutamate carrier 1 (AGC1 or aralar) is a key component of the malate-aspartate shuttle (MAS), which transfers NADH-derived reducing equivalents from the cytosol into mitochondria to support oxidative phosphorylation. Disruption of MAS leads to cytosolic NADH accumulation, NAD depletion, and a reduced NAD/NADH ratio, impairing redox-sensitive enzymes. AGC1 is primarily expressed in the central nervous system. AGC1 deficiency is a rare autosomal recessive disorder characterized by seizures, intellectual disability, and hypomyelination. The disorder impairs mitochondrial export of aspartate, thereby reducing neuronal synthesis of N-acetylaspartate (NAA), which is essential for myelination by oligodendrocytes. Consequently, hypomyelination is noted on MRI, and NAA appears decreased on MR spectroscopy (MRS). CASE STUDY: Two Hispanic male siblings (now 21y and 17y) with a homozygous SLC25A12 mutation (p.Gly398Val) presented with seizures, intellectual disability, hypotonic-ataxic cerebral palsy, and characteristic MRI/MRS findings. Their diagnosis was confirmed by whole exome sequencing when they were 9 and 4 years old, respectively. MRI showed cerebral atrophy and cortical dysplasia. MRS showed diffuse reduction in NAA and a consistent but unknown signal at 3.62 ppm. Aspartate supplementation did not result in any clinical or imaging improvement. Subsequently, both were treated with a modified Atkins/ketogenic diet with MCT oil in addition to antiseizure medications for eight years, with inconsistent dietary adherence. The elder brother has remained stable with some developmental progress, while the younger brother recently experienced mild regression following a period of developmental stability. Follow-up imaging showed no significant change. CSF organic acid analysis revealed elevated 2OH-butyrate, lactate, pyruvate, and acetoacetate, with low levels of glycolate, glyoxylate, and 5-oxoproline. Both brothers exhibited a marked preference for high-protein foods and an aversion to sweets from early childhood, mirroring dietary patterns commonly observed in citrin deficiency. DISCUSSION: We describe the two oldest known individuals with AGC1 deficiency. Their neuroimaging results remained largely stable over eight years of ketogenic therapy. The elder sibling showed modest progress, while the younger regressed in some motor milestones at age 16. Although blood and urine metabolomics were non-diagnostic, CSF organic acids revealed patterns suggestive of impaired redox balance, supporting mitochondrial dysfunction as a key feature of AGC1 deficiency. - Source: PubMed
Publication date: 2025/12/27
Urquiza NoemiPartikian ArthurBluml StefanSaitsu HirotomoMatsumoto NaomichiGriffith Lindsay WilliamsMcGowan RachelYano Shoji - Sarcopenia is a common age-related skeletal muscle disorder that lacks diagnostic and therapeutic options. Emerging evidence suggests that cuproptosis, a copper-dependent form of regulated cell death, contributes to muscle atrophy, yet the underlying associations remain poorly understood. To address this gap, we integrated two GEO datasets (GSE1428 and GSE25941) for differential expression analysis and applied weighted gene co-expression network analysis (WGCNA) to identify disease-related modules. Cuproptosis-related genes (CRGs) from GeneCards database were intersected with DEGs and WGCNA gene modules to obtain sarcopenia-associated cuproptosis DEGs (SAR-CUP DEGs). Functional enrichment was performed using GO, KEGG, GSEA and GSVA. Hub genes were further identified through three machine learning algorithms (LASSO, RF, and SVM). Regulatory networks were constructed via NetworkAnalyst and GeneMANIA database. A diagnostic model was also developed and later validated in an independent dataset (GSE136344). Experimental validation was performed in a D-galactose-induced sarcopenia cell model. We identified 367 DEGs and 7 co-expression modules, among which 14 SAR-CUP DEGs were mainly enriched in mitochondrial energy metabolism pathways. Machine learning methods highlighted and as hub genes. Regulatory network analysis revealed key modulators, such as FOXC1, miR-16-5p, GOT2, and GOT1. Diagnostic performance analysis demonstrated strong predictive value for (AUC = 0.879) and (AUC = 0.858), and RT-qPCR confirmed their downregulation in the sarcopenia cell model ( < 0.01). In conclusion, and are promising biomarkers linking copper metabolism dysregulation with sarcopenia, offering potential targets for diagnosis and therapy. - Source: PubMed
Publication date: 2025/11/21
Yan HongyuShi LongLi YangZhang Zhiwen - Diabetic nephropathy (DN) is a critical microvascular complication of diabetes. Increasing evidence suggests that dysregulation of glutamine metabolism contributes to DN pathogenesis. This study aimed to explore alterations in glutamine metabolism-related genes (GMRGs) in DN. Nine differentially expressed GMRGs (DE-GMRGs) were identified by intersecting 103 GMRGs with 2,281 DEGs from the GSE142153 dataset comparing normal and DN groups. Notably, DE-GMRGs located on autosomes were significantly enriched in pathways related to glutamine metabolism and the metabolism of alanine, aspartate, and glutamate. The Least Absolute Shrinkage and Selection Operator (LASSO) and Support Vector Machine-Recursive Feature Elimination (SVM-RFE) methods were employed to pinpoint key genes, SLC7A5 and SLC25A12. SLC7A5 was found to be upregulated in DN, whereas SLC25A12 showed decreased expression. The diagnostic potential of these genes was further validated by assessing the area under the receiver operating characteristic (ROC) curve. Correlation analysis revealed strong associations between these key genes and clinical markers such as glomerular filtration rate (GFR), serum creatinine, and immune cells, including mast cells and effector memory CD8 T cells. Drug prediction and molecular docking analyses indicated that valproic acid might serve as an effective therapeutic agent targeting these genes. Glutamine metabolism-related genes SLC7A5 and SLC25A12 were identified as potential diagnostic and therapeutic targets for DN. These findings offer valuable clinical insights for the diagnosis and management of DN. - Source: PubMed
Publication date: 2025/12/29
Luo YuanyuanBai Ruojing