SLC7A9 Antibody
- Known as:
- SLC7A9 Antibody
- Catalog number:
- XW-8130
- Product Quantity:
- 0.05 mg
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- SLC7A9 Antibody
Related genes to: SLC7A9 Antibody
- Gene:
- SLC7A9 NIH gene
- Name:
- solute carrier family 7 member 9
- Previous symbol:
- CSNU3
- Synonyms:
- -
- Chromosome:
- 19q13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1999-09-16
- Date modifiied:
- 2016-02-17
Related products to: SLC7A9 Antibody
Related articles to: SLC7A9 Antibody
- Cystinuria is a genetic disorder resulting from mutations in the SLC3A1 and SLC7A9 genes, which impair the reabsorption of cystine, ornithine, lysine and arginine and lead to increased urinary excretion of cystine. Elevated urinary cystine concentration promotes precipitation and subsequent stone formation, manifesting as recurrent urolithiasis. Cystinuria is the most common genetic condition that results in urolithiasis and is typically diagnosed in adolescence. In this case report, we present a male patient diagnosed with cystinuria at the age of 67. The patient presented with acute left flank pain, and noncontrast CT imaging of the urinary tract identified left renal calculi and multiple proximal ureteric stones, accompanied by hydronephrosis. Ureteroscopy revealed dense calculi resistant to laser fragmentation, and stone analysis confirmed a 100% cystine composition. The patient reported a previous stone event at age 18 with spontaneous passage but had remained stone-free for nearly 50 years and had no prior diagnosis of cystinuria. This case demonstrates that cystinuria, although typically diagnosed in childhood or adolescence, can be diagnosed in older adults with recurrent or resistant urolithiasis. Clinicians should maintain a high index of suspicion for cystinuria in adult patients with unexplained or refractory stone disease, and stone analysis remains essential for accurate diagnosis. Optimal management centres on preventing recurrent stone formation through aggressive fluid intake, dietary modifications and medical alkalinisation of urine. Multidisciplinary follow-up is important to reduce the risk of renal impairment and potential later need for nephrectomy. - Source: PubMed
Publication date: 2026/09/19
Jeffery SarahTyson MatthewMcAuley LauraHarty John - : Cystinuria is an inherited disorder characterized by impaired proximal tubular reabsorption of cystine, resulting in recurrent cystine stone formation. Mutations in the and genes are the main genetic causes of the disease, while variants in have also been associated with cystinuria in specific populations. Despite advances in understanding its molecular basis, cystinuria remains clinically heterogeneous, making disease progression and prognosis difficult to predict. This study aimed to investigate circulating microRNAs (miRNAs) as potential molecular biomarkers, characterize their expression profile in patients with cystinuria, and evaluate their association with clinical indicators of disease severity. : The study group included 16 patients with a clinically established diagnosis of cystinuria, while the control group consisted of 11 healthy individuals without a history of nephrolithiasis. Candidate miRNAs were selected based on their predicted regulatory interactions with genes implicated in cystinuria pathogenesis. Eight microRNAs (miR-29a-3p, miR-29b-3p, miR-29c-3p, miR-1207-3p, miR-10a-3p, miR-3658, miR-141-3p, and miR-200a-3p) were analyzed by quantitative real-time PCR (qPCR). Among the eight miRNAs evaluated, miR-10a, miR-141, miR-200a, and miR-3658 were significantly downregulated in patients with cystinuria compared with healthy controls. Higher expression levels of miR-10a, miR-141, and miR-200a were significantly associated with a greater number of previous surgical procedures ( < 0.05). Additionally, increased miR-10a expression was associated with impaired renal function, defined as serum creatinine levels above 1.2 mg/dL. miR-10a, miR-141, miR-200a, and miR-3658 were significantly downregulated in patients with cystinuria compared with healthy controls. Within the cystinuria cohort, higher expression of miR-10a was associated with impaired renal function, whereas increased expression of miR-10a, miR-141, and miR-200a correlated with a greater number of surgical interventions, suggesting a potential relationship with disease severity. Further studies in larger, genetically characterized cohorts are warranted to clarify the biological role and clinical utility of these miRNAs as biomarkers of cystinuria. - Source: PubMed
Publication date: 2026/07/28
Ayres Daniel CernachPimenta RuanDos Santos Gabriel ArantesCandido PatríciaAntunes MilenaDip Junior Nelson GasparMarchini Giovanni STorricelli Fábio CVicentini Fábio CDanilovic AlexandreBatagello Carlos ALeite Kátia R MNahas William CReis Sabrina TMazzucchi Eduardo - Cystinuria is a rare inherited disease characterized by increased urinary cystine levels resulting in the formation of cystine stones in the urinary tract. Mutations in the genes encoding the cystine transporter complex, SLC3A1 and SLC7A9, are the primary drivers of the disease. Current mouse models used to study cystinuria rely on gene deficiency or spontaneous mutations in mice that do not accurately reflect the pathogenic mutations found in humans. - Source: PubMed
Publication date: 2026/08/18
Bhatt Nirmal PNguyen Theresa T HIacono GiuliaRodriguez Gabriel RAnderson Connor R BPerry AndrewBarlow Christopher KAnderson DovileBurgio GaetanMarsland Benjamin JJiang Simon HDeshpande Aniruddh VStarkey Malcolm R - Cystine stones account for 1%‒2% of adult and up to 10% of pediatric kidney stones. They result from cystinuria, an autosomal recessive disorder caused by mutations in solute carrier family 3 member 1 () and , which encode the renal cystine transporter subunits. These mutations impair cystine reabsorption, raising urinary cystine levels and driving stone formation. Current diagnostic options remain limited in terms of detecting molecular dysfunctions. Thus, we aimed to develop a nonradioactive, cell-based method for the functional assessment of cystine transporters and mutation-specific pathologies. - Source: PubMed
He XiaobaiQian XinyiZheng XiaoguangZhang HongShao JinbangChen XiaopanRuan QiLyu JianxinYang LeixiangChen Linjie - Mutations of LDLR, APOB and PCSK9 have been well-established to cause hypercholesterolemia while the pathogenic effects of LPL has been confirmed by cohorts and functional studies in hypertriglyceridemia. However, these mutations do not fully account for all dyslipidemia, and it remains unexplained why some patients with dyslipidemia develop coronary heart disease (CHD) while others do not. - Source: PubMed
Publication date: 2026/05/12
Huang ManSong XiuliZhou ShuniZhang HaiyanHe LijuanChen YanghuiChen GuangzhiDing HuJiang JiangangWang YanWang Dao WenSun YangWang Hong