Slc22a5 antibody
- Known as:
- Slc22a5 (anti-)
- Catalog number:
- orb2443
- Product Quantity:
- 100 ug
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- Slc22a5 antibody
Related genes to: Slc22a5 antibody
- Gene:
- SLC22A5 NIH gene
- Name:
- solute carrier family 22 member 5
- Previous symbol:
- CDSP
- Synonyms:
- OCTN2, SCD
- Chromosome:
- 5q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-07-16
- Date modifiied:
- 2016-10-05
Related products to: Slc22a5 antibody
Related articles to: Slc22a5 antibody
- Role of Vitamin D Receptor (VDR), Calcium Sensing Receptor (CaSR) and their associated long non-coding RNAs (lncRNAs) in Parathyroid Cancer (PC) development and PC diagnosis need to be explored. LncRNA SLC2A1-DT and SLC22A5-AS1 were dysregulated in previous microarray study. LncRNA SLC2A1-DT may target on VDR in prediction. Meanwhile, lncRNA SLC22A5-AS1was associated with CaSR. - Source: PubMed
Publication date: 2026/06/18
Zhang DongxueZhao TengBi DehuiHuang JianJiang TaoZhao PengxiangWei Bojun - Carrier screening is a long-standing genetic testing process offered to at-risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X-linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study and tested by Exome sequencing (ES). Expanded carrier screening (ECS) was performed for 176 disorders that met the inclusion criteria of the ACMG and ACOG. Genes with single nucleotide variants (SNVs) identified with a carrier rate > 1% for AR disorders included HBB, CFTR, PMM2, NPHS2, GJB2, ACADM, ALDOB, MEFV, MKS1, NEB, PAH, ATM, CPT2, CYP21A2, AGXT, BBS1, CAPN3, COL4A4, DHCR7, GAA, IVD, LAMA2, SLC22A5, SLC26A4, USH2A. For XL disorders, variants were detected in the RS1 gene. ECS offers a wealth of information about SNVs related to AR and XL disorders in specified populations. The information obtained from ECS provides multiple advantages: (a) it identifies the most prominent risks in health care in a given population and contributes to the prevention of genetic disorders, (b) it enriches available databases with pathogenic or likely pathogenic SNVs, and (c) it records novel targets for molecular clinical genetic testing. - Source: PubMed
Publication date: 2026/05/29
Kostoulas CharilaosSesse AthanasiaBouba IoannaNajdecki RobertKonitsiotis SpyridonMarkoula SofiaGeorgiou Ioannis - Gastric cancer (GC) poses a significant health threat, and alterations in Fatty acid β-oxidation (FAO) may influence its progression. However, the precise mechanisms underlying this association remain unclear. FAO-related genes were analyzed using transcriptomic datasets from databases of GEO and TCGA. Totally 160 FAO-associated genes were identified, and a risk scoring model was subsequently established to stratify patients into groups of low- and high-risk. Immune characteristics, drug sensitivities, and hub genes, including IL-6, were assessed. Subsequently, immunoblotting and immunohistochemistry were performed on GC cell lines and tissue samples to evaluate IL-6 expression. Analysis of the TCGA and GEO databases revealed a FAO-related gene signature comprising ACADS, ACO2, CPT2, SLC22A5, AOC3, CD36, CIDEA, G0S2, GABARAPL1, and SERINC1. We also examined gene mutations and constructed a prognostic risk scoring model with validation achieved through a nomogram to predict gastric cancer risk. Immune infiltration analysis and drug sensitivity testing (e.g. AG-014699, Axitinib, BX-795, and Cisplatin) were also conducted. IL-6 emerged as a core gene with significant expression difference across cellular and tissue levels. FAO plays a critical role in the prognosis of GC, and IL-6 may serve as a key biomarker for diagnosis and therapeutic strategies. - Source: PubMed
Publication date: 2026/05/02
Qu ChaoYuan XuetaoYang ShutingQiao YifanZhang RenjianzhiWu YunhuaZhu MengkeDu JiayinLi GanZhang RuiSun XuejunLi Xuqi - Sarcopenia is an age-related muscle disease, and its gene regulation in immune cells is not well understood. Using immune cell-specific single-cell expression quantitative trait loci (sc-eQTLs), genome-wide association studies (GWAS), and multi-omics data, we systematically explored their potential causal roles in sarcopenia. We integrated sc-eQTL and cis-eQTL data from whole blood and skeletal muscle, seven sarcopenia-related phenotypes GWAS summary statistics, and used a Muscle Function-Mass Genetic Structural Equation Model (MF-M GSEM), Mendelian randomization (MR), and Bayesian colocalization analyses to assess causal gene effects across 14 immune cell types, whole blood, and skeletal muscle. A two-step MR was then applied to explore mediation through common diseases and carnitine-related metabolites. Fourteen genes, including HLA-DRB1, HLA-C, and SLC22A5, showed significant causal effects on at least three sarcopenia phenotypes in one or more immune cell types (Bonferroni-adjusted P < 0.05; posterior probability for hypothesis 4 > 0.8). Heart failure, rheumatoid arthritis, and chronic kidney disease mediated the causal effects of sc-eQTLs for FNBP4, HLA-DRB1, HLA-C, and HLA-DQA1 on MF-M GSEM (P < 0.05). Isovalerylcarnitine (C5) mediated the causal effect of the cis-eQTL of SLC22A5 in skeletal muscle on MF-M GSEM, with a mediation proportion of 67.6% (FDR-adjusted P < 0.05). Our findings highlight that immune cell-specific expression of HLA-DRB1, HLA-C, SLC22A5, and FNBP4 contributes to the pathogenesis of sarcopenia, suggesting these genes as potential therapeutic targets and mechanistic entry points for future research. - Source: PubMed
Publication date: 2026/05/02
Ding KaixiJiang WeiLei MingGao Yongxiang - This study aimed to evaluate the feasibility of using MassARRAY molecular mass spectrometry to detect SLC22A5 gene mutations in second-tier screening for primary carnitine deficiency (PCD) among newborns. The goal is to provide technical evidence to support improvements in PCD screening and to reduce diagnostic delays. We first reviewed literature and databases to identify commonly reported pathogenic variants in the SLC22A5 gene among the Chinese population and established a hotspot mutation panel. MassARRAY analysis was conducted on dried blood spot samples using multiplex PCR, single-base extension, and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS). The constructed panel included 29 mutations with an estimated allele coverage of 87.3%, and the assay achieved a detection success rate of 99.75%. A total of 1200 neonates suspected of having PCD, identified via tandem mass spectrometry (MS/MS) between January 2023 and December 2024 in Beijing, were consecutively enrolled in this study. Out of the 1200 newborns, 125 (10.42%) carried at least one mutation: five cases (0.42%) had two variants and 120 cases (10%) had a single variant. A total of 991 samples (82.58%) were mutation-negative, though one case was a confirmed false negative. Incomplete mutation data were observed in 84 samples (7%). Among the 29 targeted sites, 19 mutations were detected (65.52%), with the most frequent being c.1400C > G (p.S467C), followed by c.51C > G (p.F17L), c.92C > T (p.P31L), and c.428C > T (p.P143L). Eight PCD cases were clinically confirmed; five were identified as having two mutations via MassARRAY, two had single mutations, and one showed no detectable mutation. MassARRAY-based detection of SLC22A5 mutations offers a viable method for second-tier PCD screening. It can reduce recall rates and false positives in initial MS/MS screening and shorten the diagnostic process. Further validation in larger cohorts and continued expansion of the mutation panel are recommended to enhance the accuracy of this method. - Source: PubMed
Publication date: 2026/04/12
Gong LifeiZhao JinqiLi LuluLiu WeiWan ZhihuiTang YueWang ShunanCai BolunZhao YufeiKong Yuanyuan