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
- 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 - Cystine stones are caused by pathogenic variants in SLC3A1 or SLC7A9. Our prior study revealed a large gap between genetic and clinical prevalence. With increasing discovery of novel variants, we aim to assess how these impact genetic prevalence estimates. Due to the disease rarity, direct patient recruitment and observation is impractical. We applied a population genetics approach to estimate genetic burden and prevalence. Pathogenic variants were identified from the 2022 Human Gene Mutation Database and intersected with population variants from the 1000 Genomes Project Phase 3. Allele frequency, carrier rate, and affected rate were calculated. Results were compared to prior data, and simulations were performed across varying initial allele frequencies. We identified 116 and 76 novel pathogenic variants in SLC3A1 and SLC7A9, respectively. Pathogenic allele frequencies increased by +0.12% (SLC3A1) and 0.16% (SLC7A9), leading to fold-changes in genetic prevalence of 1.51x and 2.78x. The combined updated prevalence is 1 in 17,612, a 1.74x increase. Simulations confirmed the fold-change magnitude. In rare diseases, even modest discovery of new variants can significantly increase genetic prevalence. As shown in cystine stone, this helps narrow-but not close-the gap with clinical prevalence. Further efforts are needed to bridge this gap and guide treatment development. - Source: PubMed
Publication date: 2026/04/09
Wu Chen-Han WilfredChang JoshuaLovrenert KatreyaBodner DonaldHildebrandt FriedhelmSchumacher Fredrick R - BACKGROUNDKidney stone disease (KSD) affects approximately 10% of the population. While genetic factors are known to play a role in KSD, determining the clinical relevance of rare variants in KSD genes identified in adults remains challenging.METHODSThe Swiss Kidney Stone Cohort is a multicenter longitudinal, observational study consisting of kidney stone formers (KSFs) (n = 701) and non-kidney stone formers (NKSFs) (n = 200). Blood and urine samples were collected at enrollment and over 3 years for deep biochemical phenotyping. Results were correlated with rare genetic variants in established KSD genes identified through whole-exome sequencing and classified according to American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG/AMP) criteria.RESULTSCollectively, we found rare (likely) pathogenic (LP/P) variants representing strong KSD risk factors in 6.8% of KSFs, predominantly in genes involved in renal phosphate handling and cystinuria. Detailed biochemical analyses confirmed that KSFs carrying heterozygous LP/P SLC34A3 variants exhibited significant hyperphosphaturia. In contrast, monoallelic LP/P variants in SLC34A1, SLC9A3R1, or CYP24A1, which were also frequent in NKSFs, did not result in the expected biochemical alterations, calling into question their causative role as strong KSD risk factors. In cystinuria, monoallelic SLC7A9 variants represented intermediate risk factors, since they caused biochemical alterations but required additional factors for KSD occurrence, based on frequent LP/P variants in NKSFs. The presence of strong risk factors was associated with higher kidney stone (KS) recurrence over the 3-year observation period, supporting a predictive value for genetic testing.CONCLUSIONSCorrelation of genetic findings with thorough biochemical phenotyping and comparison with NKSFs redefines the clinical relevance of variants in KSD genes and has prognostic value. - Source: PubMed
Publication date: 2026/03/02
Münch JohannesPetrovska JanaFigueiro-Silva JoanaRubio-Aliaga IsabelCabello Elena MIvanovski IvanPapik MichaelOneda BeatriceFuster Daniel GSeeger HaraldErnandez ThomasBuchkremer FlorianWuerzner GregoireDhayat Nasser ARitter AlexanderSegerer StephanRoth BeatRauch AnitaFerraro Pietro ManuelBonny OlivierWagner Carsten ABachmann-Gagescu Ruxandra - Grass carp (Ctenopharyngodon idellus), China's most valuable freshwater aquaculture species, exhibits growth and nutrient utilization efficiency that are highly dependent on feed quality. After macronutrient balancing, nano-selenium (nano-Se) supplementation becomes critical for enhancing health and profitability. Although nano-Se has been observed to alleviate oxidative stress and inflammation, the molecular mechanisms underlying its hepatoprotective effects following long-term administration remain systematically uncharacterized. To fill this gap, this study utilized transcriptomic and metabolomic technologies to investigate the beneficial alterations in the liver of grass carp following 30 weeks of nano-Se feeding. Ninety juvenile grass carp were randomly allocated to either a control group (basal diet) or a nano-Se group (basal diet + 0.6 mg/kg nano-Se); livers were harvested for omics analyses at the end of the 30-week feeding period. Transcriptomic analysis initially identified 533 differentially expressed genes (110 up-regulated, 423 down-regulated). Gene Ontology (GO) functional enrichment analysis indicated that these genes were primarily involved in biological processes such as metabolic processes, biological regulation, and stress response, suggesting that nano-Se broadly regulates hepatic metabolic activity and stress adaptability. Further Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis revealed significant enrichment in the "protein digestion and absorption" pathway. Key genes in this pathway, including collagen VI α1/2 (COL6A1/2), elastase ELA2/3 L, and amino acid transporters SLC3A1 and SLC7A9, were significantly down-regulated, indicating that nano-Se may mitigate oxidative stress-induced micro-damage in hepatocytes, thereby reducing the liver's demand for damage repair and fibrotic processes. Metabolomic analysis detected 1404 metabolites, with 267 differentially metabolites (198 up-regulated, 69 down-regulated) spanning multiple metabolic categories such as amino acids, lipids, and cofactors. Glycerophospholipids (GP) and sphingolipids (SP) were significantly up-regulated, while bile acid metabolites were down-regulated. Related metabolic pathway analysis showed that "glycerophospholipid metabolism" and "linoleic acid metabolism" pathways were significantly activated. Glycerophospholipids and sphingolipids are major components of cell membranes; their increased levels may enhance the integrity and stability of hepatocyte membranes. Concurrently, enhanced linoleic acid metabolism may contribute to energy supply and inflammation regulation. These changes collectively suggest that nano-Se may improve hepatic redox homeostasis and metabolic balance by remodeling hepatocyte membrane lipid composition and optimizing energy metabolism pathways. Collectively, nano-Se alleviates oxidative injury and maintains metabolic homeostasis in the grass-carp liver through the coordinated modulation of amino-acid, lipid and immune-related pathways, thereby providing a theoretical basis for its long-term, safe application in aquafeeds; future work is still required to verify these findings by measuring antioxidant-enzyme activities and to optimize dosage through graded-dose experiments. - Source: PubMed
Publication date: 2026/02/11
Chen YixuanXie MinminZhang PinpinZheng MingpengZhang YingZhou Chuang - Amino acid metabolism plays a crucial role in cancer progression and invasion by modulating immune responses within the tumor microenvironment and tumor immune response. Transmembrane transport of cellular amino acids is mediated by members of the cationic amino acid transporters SLC7 family, a group of cationic amino acid transporters. Dysregulation of SLC7 family genes can disrupt systemic homeostasis, contributing to a variety of diseases, including multiple cancer types. Additionally, SLC7 family members can alter amino acid metabolic plasticity, further influencing tumor adaptation and progression. However, the precise impact of SLC7 family genes within the cancer microenvironment remains largely unexplored. This study analyzed the expression patterns, genomic alterations (single nucleotide variants, copy number variations, methylation levels), pathway activations, and clinical and subtype associations of SLC7 family genes across The Cancer Genome Atlas (TCGA) pan-cancer cohort. SLC7 activity was quantified using the ssGSEA function of the “GSVA” package to generate the SLC7 score, which was found to correlate with oncogenic and immune-related pathways, including mTORC1 signaling, interferon-gamma response, and inflammatory pathways. In vitro validation was conducted using multiple cancer cell lines (A549, H1299, HCT116, FaDu, Panc-1) and counterparts (BxPC-3, SW480, H460, BEAS-2B, FHC, HaCaT). Gene knockdown was achieved by siRNA transfection, followed by quantitative PCR, Western blotting, and functional assays assessing proliferation, invasion, and ferroptosis (iron and GSH levels) under erastin treatment. SLC7 family genes showed significant associations with immune infiltration and poor prognosis across various cancers. The SLC7 score demonstrated strong positive correlations with malignant and immune-related pathways, such as mTORC1 signaling, interferon-gamma response, and inflammatory response across the pan-cancer cohort. Elevated SLC7 scores were also associated with enhanced immune-related characteristics, and SLC7 genes, particularly SLC7A8 and SLC7A9, emerged as promising predictive markers for response to immune checkpoint inhibitor therapy (Atezolizumab) in cancer patients. Among SLC7 family genes, SLC7A5 expression was markedly elevated in KRAS-mutant tumor cell lines and was required for KRAS-driven proliferation and invasion. SLC7A11 was highly expressed in multiple tumor types and protected cancer cells from ferroptosis by maintaining intracellular cystine uptake and redox homeostasis. Individuals exhibiting elevated SLC7 scores and aberrant expression of SLC7 family genes demonstrate significant immune-inflammatory tumor immune microenvironment (TIME) characteristics and predictive potential for immunotherapy. Thus, the SLC7 family genes have the potential to serve as valuable biomarkers and therapeutic targets for cancer patients. - Source: PubMed
Publication date: 2026/01/08
Peng GangPeng HaoShao ZheJiang LiangqiLi MingruiLi Yang