Ask about this productRelated genes to: SLC12A3 Blocking Peptide
- Gene:
- SLC12A3 NIH gene
- Name:
- solute carrier family 12 member 3
- Previous symbol:
- -
- Synonyms:
- NCCT
- Chromosome:
- 16q13
- Locus Type:
- gene with protein product
- Date approved:
- 1995-10-02
- Date modifiied:
- 2016-02-17
Related products to: SLC12A3 Blocking Peptide
Related articles to: SLC12A3 Blocking Peptide
- To report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype. - Source: PubMed
Publication date: 2026/07/10
Luo YouhongLiao MingruiLu WeiliLi MaotingDeng ChaohuaZhou YaoYang DandanYang FeiXu Dan - Hyponatremia is one of the most common electrolyte disorders in clinical practice and is frequently observed following thiazide use. Advanced age and female gender are implicated in the etiology of hydrochlorothiazide (HCTZ)-associated hyponatremia. There has also recently been mention of a genetic disposition. This study evaluated the genetic component, and particularly the clinical significance, of variants in the gene in the development of hyponatremia in hypertensive patients using HCTZ-group diuretics. - Source: PubMed
Publication date: 2026/07/15
Ozkan GulsumCelik CanerTozkir HilmiAsıkovali SemihBayrakci Nergiz - Autism Spectrum Disorder (ASD), Bipolar Disorder (BD), and Schizophrenia (SCZ) are major neuropsychiatric conditions that contribute substantially to global disability. Although traditionally considered distinct disorders, increasing evidence suggests overlapping molecular mechanisms across these conditions. In this study, we applied a cross-disorder transcriptomic framework to identify shared molecular dysregulation across ASD, BD, and SCZ. Publicly available RNA-sequencing datasets for each disorder were analysed independently using disorder-specific case-control comparisons. Differentially expressed genes were ranked within each disorder using a composite magnitude-confidence score integrating effect size and statistical significance, and the top 500 ranked genes per disorder were selected for cross-disorder analysis. Genes recurrently dysregulated in at least two disorders were prioritised based on their mean cross-disorder score. This approach identified 20 high-confidence recurrent genes, with pronounced transcriptional convergence observed between BD and SCZ. Notably, genes such as TPRX1, NPC1L1, and SLC12A3 emerged among the highest-ranked cross-disorder candidates, reflecting consistent and robust dysregulation across disorders. Directionality analysis revealed predominantly concordant expression patterns, with limited disorder-specific divergence. Functional annotation highlighted biological processes related to cellular homeostasis, immune regulation, metabolic pathways, and signal transduction. Overall, this study provides a systematic and quantitative framework for identifying shared molecular signatures across major neuropsychiatric disorders. The prioritised genes identified here represent promising candidates for further functional investigation and contribute to a deeper understanding of transdiagnostic disease biology. - Source: PubMed
Publication date: 2026/05/11
Mohan SuprajaSelvam Prasanna KumarVasudevan Karthick - Gitelman syndrome (GS) is a rare autosomal recessive renal tubulopathy caused by SLC12A3 gene mutations, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Its estimated prevalence ranges from 1 to 10 per 40 000 individuals worldwide, with a carrier frequency approaching 1%, underscoring its potential public health relevance despite underdiagnosis. This case highlights a rare presentation of GS with acute quadriparesis mimicking neurological emergencies, emphasizing the risk of misdiagnosis in acute care settings. - Source: PubMed
Publication date: 2026/06/10
Chandani Harshika KhaimAther AasiyaSiddiqui ErumKhan Muhammad SaadChandani Devya KhaimMahmoud Abubakr - To investigate the clinical phenotype, SLC12A3 gene spectrum, and genotype-phenotype correlation in Chinese children with Gitelman syndrome (GS). - Source: PubMed
Publication date: 2026/06/23
Wang WenyanZhao FeiDing GuixiaHuang SongmingCheng Xueqin