Ask about this productRelated genes to: SLC12A1 antibody
- Gene:
- SLC12A1 NIH gene
- Name:
- solute carrier family 12 member 1
- Previous symbol:
- -
- Synonyms:
- NKCC2
- Chromosome:
- 15q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-02-16
- Date modifiied:
- 2016-02-17
Related products to: SLC12A1 antibody
Related articles to: SLC12A1 antibody
- Bartter syndrome (BS) represents a group of rare, autosomal recessive renal tubular disorders characterized by hypokalemic hypochloremic metabolic alkalosis, secondary hyperaldosteronism, and normal to low blood pressure. The underlying pathophysiology is primarily driven by defects in critical ion transport proteins or channels localized within the thick ascending limb of the loop of Henle, leading to impaired salt reabsorption. Recent advances in molecular genetics have refined the classification of Bartter syndrome. Current evidence supports SLC12A1, KCNJ1, CLCNKB, BSND, and MAGED2 as the core disease genes within the contemporary BS spectrum, with MAGED2 causing a distinct X-linked transient antenatal form. In contrast, gain-of-function CASR variants, historically labeled "type V Bartter syndrome", are now more appropriately described as CaSR-associated Bartter-like phenotypes within the broader spectrum of disorders of calcium homeostasis. Despite significant progress, two primary research limitations remain. First, fully elucidating genotype-phenotype correlations and overcoming diagnostic complexities continues to be highly challenging due to substantial phenotypic overlap and genetic heterogeneity. Compounding these diagnostic hurdles is the equally critical challenge of understanding mutation-driven pathogenic mechanisms to develop viable clinical interventions. This review systematically summarizes the current molecular genetic landscape of BS to address these gaps. We highlight the relationships between specific genetic variants and clinical manifestations, delve into molecular pathophysiology including protein misfolding and trafficking defects, and explore emerging therapeutic approaches such as molecular chaperones. By integrating genetic and clinical data, this work aims to provide a comprehensive framework to facilitate precise diagnosis and individualized treatment strategies, ultimately advancing precision medicine in the management of Bartter syndrome. - Source: PubMed
Publication date: 2026/04/19
Zhu LinaLi YangBao Yiyao - Keel length is a key body size indicator, which has an important impact on the overall growth performance, bone health, and production performance of poultry. In the process of selecting crossed strains for yellow feathered broiler chickens, it is generally necessary to select keel length, but there is little research on keel length development. Therefore, resequencing and GWAS was employed to obtain SNP molecular markers associated with keel length in a specialized Yellow-feathered broiler line. We identified 10 SNPs that were potentially significantly correlated with keel length for the first time located at 9 genes, including ATP7B, CST3, OTOP1, CRMP1, SLC12A1, COPS2, FAM227B, IFT140, APLP2. SNP2 and SNP3 loci were in a strongly linked state (D ' value=1), the other 8 SNP loci were not in a strongly linked state (D 'value<1). The association analysis between single SNP marker and keel length traits showed that TT and CT at SNP1 (rs315701680), GG at SNP2 (rs738740137), AA at SNP3 (rs317223723), AA at SNP4 (rs732443622), GG at SNP5(rs315667756), CC at SNP6 (rs314381113), GG at SNP7 (rs732811384), TT at SNP8 (rs314197610), CC and TC at SNP9 (rs13782000), TT and GT at SNP10 (rs737401141) genotypes were all the dominant genotypes for keel length. The strong linkage between SNP2 and SNP3 resulted in two haplotypes H1 (AG) and H2 (GA), respectively. The H1H1 haplotype (GGAA) produced by SNP2 and SNP3 linkage was the dominant genotype for keel length. The SNP molecular markers and dominant genotypes at SNP1-SNP10 loci identified in this study may be used to improve the accuracy and genetic progress of keel length selection. Meanwhile, candidate genes potentially significantly related to keel length will lay the foundation for genetic selection of keel length and cultivation of high-quality yellow feathered broilers in the future. - Source: PubMed
Publication date: 2026/03/27
Tu Y JLiu Y FZhang MJu X JShan Y JJi G GShu J T - The Xinjiang Black pig is an excellent breed developed by the Xinjiang Production and Construction Corps in the 1990s; however, it has been endangered by the impact of commercial breeds. Whole genomes of 224 individuals from the Xinjiang Black pig conservation population were resequenced. Genetic structure and diversity analyses revealed that Xinjiang Black pigs underwent severe inbreeding and were genetically closely linked to Landrace pigs. The genetic diversity of the F generation was well preserved in the existing breeding scheme. A total of 686 significant selection regions and 406 candidate genes were identified using and θπ complementary methods, with Xinjiang Black pigs, Min pigs, and Laiwu pigs as ancestral populations, and F. Based on Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, and quantitative trait loci annotations, potential germplasm candidate genes were identified. Among these, , , and are associated with fat deposition; , , , and are closely associated with male reproductive ability; and are strongly associated with oestrous cycle regulation and oocyte maturation; and and are extremely important for osmotic regulation and foetal survival. These findings deepen our understanding of the genetic mechanisms of artificial selection in Xinjiang Black pigs and provide a theoretical basis for subsequent breeding and genetic research on this breed. - Source: PubMed
Publication date: 2026/02/28
Tian MingmingFeng YunWang HaitaoWang QiangDong JingyangZhao HaichaoYang FahuiLi MengxunPu GuangZhang XinyinWang DanLi GuangChen HongweiHuang Tao - Type I Bartter syndrome is a rare autosomal recessive tubulopathy resulting from mutations in the SLC12A1 gene, leading to defective sodium-chloride reabsorption in the thick ascending limb of the loop of Henle. Affected neonates typically present with profound fluid and electrolyte disturbances, polyuria, and metabolic derangements. Early diagnosis and individualized management are crucial to prevent life-threatening complications and support appropriate growth and development. We report the case of a male preterm infant born at 33 weeks' gestation following a pregnancy complicated by severe polyhydramnios requiring multiple amnioreductions. At 2 weeks of age, he was admitted with severe dehydration, acute kidney injury (creatinine 205 µmol/L; eGFR 8 mL/min/1.73m), marked polyuria (300 mL/kg/day), and significant electrolyte abnormalities, including hyponatremia, hypokalemia, hypochloremia, and metabolic acidosis. During the first week of hospitalization, he developed necrotizing enterocolitis. Bartter syndrome was suspected based on the biochemical profile, perinatal history, and persistent electrolyte imbalance, and subsequently confirmed by identifying a pathogenic SLC12A1 variant (NM_001184832:c.1327G>A). Management required exceptionally high fluid volumes (280-310 mL/kg/day), intensive sodium and potassium supplementation, and gradual transition from parenteral to enteral nutrition. Following expert consultation, celecoxib was introduced (2.5 mg/kg twice daily), permitting stabilization of electrolyte homeostasis and discontinuation of parenteral nutrition by day 61 of life. Throughout hospitalization, complications included catheter-related inflammation, inferior vena cava thrombosis, anemia requiring transfusion, and stage II intraventricular hemorrhage. Serial renal ultrasonography demonstrated persistent nephrocalcinosis. During 30 months of follow-up, the patient exhibited normal neurodevelopmental progress but persistent challenges in growth, requiring endocrinology supervision. Laboratory parameters generally remained stable except for periodic hypercalciuria (Ca/Crea >0.3). Episodes of intercurrent infections led to rapid electrolyte deterioration, necessitating intensified monitoring and supplementation. Celecoxib therapy remained essential, with unsuccessful attempts at dose reduction. Nephrocalcinosis persisted without deterioration in renal function. This case highlights that early diagnosis of type I Bartter syndrome enables timely targeted therapy but achieving stable fluid, electrolyte, and nutritional status remains challenging. Long-term management requires multidisciplinary care, vigilant monitoring during intercurrent illnesses, and individualized adjustments in pharmacologic and nutritional therapy. This report contributes valuable longitudinal insight into the complexities of managing neonatal-onset Bartter syndrome. - Source: PubMed
Publication date: 2026/03/10
Czubilińska-Łada JustynaSzymańska AnnaSienko AnnaBadeński AndrzejBehrendt JakubSzczepanska Maria - Globally, chronic kidney disease (CKD) affects over 800 million individuals and is characterized by significant genetic complexity. More than 600 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of genetic syndromes associated with CKD, or who were asymptomatic but had a positive family history of CKD. Extensive genetic testing (targeted gene panels and whole-exome sequencing-WES) identified a mutation in the gene in 3 out of 10 cases. In one patient, a known mutation in the gene was identified. Another four patients were diagnosed with Alport syndrome: three of these presented with de novo missense mutations in the gene, and one patient had a mutation in the gene. One patient was diagnosed with MODY5, caused by a known mutation in the gene, and one patient was diagnosed with Bartter syndrome type 1, resulting from a known mutation in the gene. We present genotype-phenotype correlations, highlighting the particularities of each patient within their family context. Our findings emphasize the importance of genotype-phenotype correlations in refining diagnosis, personalizing therapeutic management, and providing essential genetic counseling for at-risk relatives. - Source: PubMed
Publication date: 2026/03/03
Butnariu Lăcrămioara IonelaRussu RaduBabici Ramona GeaninaBăgiag AuroraTrandafir Laura MihaelaȚarcă ElenaPopovici PaulaGimiga NicoletaStarcea Iuliana Magdalena