Slc22a5 antibody (FITC)
- Known as:
- Slc22a5 (anti-) (fluorecein)
- Catalog number:
- orb4977
- Product Quantity:
- 100ug
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- Slc22a5 antibody (FITC)
Related genes to: Slc22a5 antibody (FITC)
- 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 (FITC)
Related articles to: Slc22a5 antibody (FITC)
- To investigate the incidence, genetic mutation characteristics, and prognosis of fatty acid oxidation disorder (FAOD) in neonates in Qingdao. - Source: PubMed
Lyu Jin-FengWang Hong-QinWang Wei-QingChen Yan-Ping - Kabuki syndrome (KS) is an autosomal dominant syndrome involving multiple organs and systems and can be caused by mutation in KMT2D and KDM6A genes. - Source: PubMed
Publication date: 2026/07/21
Shen Qing-BoFeng XinMin Ai-PingXu Hong-MeiTian Yan-XiaFan Gui-YingZou Li-Hua - Primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). These mutations impair carnitine transport and fatty acid metabolism, leading to a wide range of clinical symptoms, from mild fatigue to severe cardiomyopathy. Although over 100 mutations have been identified, the correlation between specific genotypes and pathogenicity remains unclear, necessitating further investigation into their molecular and clinical impacts. This systematic review aims to evaluate the association between SLC22A5 mutations and PCD, with a focus on cardiomyopathy, to characterise the molecular and functional consequences of these variants, and to explore their implications for diagnosis, treatment, and personalised care. A systematic search of PubMed was conducted, focusing on studies reporting genetic, clinical, and biochemical data related to SLC22A5. Variants were classified according to ACMG guidelines and CADD scoring, and the data were synthesised through descriptive analyses. Most reported variants are missense mutations, accounting for approximately 80% of cases, followed by deletions (12.7%), while duplications, insertions, and deletion-insertion variants are rare. According to ACMG classification, the majority of variants are pathogenic or likely pathogenic (≈72%), with VUS comprising about 24%, and benign variants being uncommon. Exons 1 and 8 have the highest frequencies, whereas Exons 5 and 6, despite fewer variants, exhibit higher mean CADD scores, suggesting greater functional impact. The findings revealed that Exons 1 and 8 harboured the most frequent mutations, while Exons 5 and 6 showed the highest pathogenicity. Nonsense variants exhibit the highest pathogenicity and CADD scores, followed by frameshift and missense mutations. Severe truncating mutations were linked to early-onset cardiomyopathy. Intronic variants are infrequent but include sites with high CADD scores, indicating potential regulatory relevance. Overall, these findings demonstrate that variant pathogenicity is influenced more by functional impact than by frequency alone. - Source: PubMed
Ghaffari Jolfayi AmirSoveizi MahdiehNaderi NiloofarSoheili AmiraliPourirahim MaryamAbdolkarimi LeylaMaleki MajidKalayinia Samira - The intestinal microbiome-derived metabolite, valerobetaine (δ-valerobetaine), promotes obesity, hepatic steatosis, and impaired cognition in mice and is associated with obesity, fatty liver disease, diabetes, and cardiovascular disease in humans. Mechanistic studies show that valerobetaine decreases systemic carnitine and inhibits mitochondrial fatty acid oxidation. Valerobetaine and its mammalian hydroxylation product, homocarnitine, share close structural homology with carnitine, which is mainly transported by the organic cation transporter 2 (OCTN2). To determine whether reductions in systemic carnitine induced by valerobetaine and homocarnitine result from interactions with OCTN2, we performed in vitro uptake studies using HEK293 cells overexpressing human OCTN2 coupled with metabolite measurement by mass spectrometry. OCTN2 overexpression increased the uptake rates of both homocarnitine and valerobetaine relative to control cells. Meldonium, an OCTN2 substrate and inhibitor, reduced uptake of both metabolites in a concentration-dependent manner. Saturating uptake kinetics were observed for valerobetaine, whereas homocarnitine exhibited linear uptake across the concentration range tested (1-100 µM). Both metabolites exhibited lower transport efficiency compared with the carnitine precursor γ-butyrobetaine and showed relatively lower potency in inhibition of carnitine uptake. Together, these findings identify homocarnitine and valerobetaine as modulators of carnitine transport and provide a mechanistic basis by which these microbiome-derived metabolites lower systemic carnitine levels and impair mitochondrial fatty acid oxidation. This study uses transport physiology, ectopic gene expression, and mass spectrometry-based detection methods to show that the microbiome-derived valerobetaine and its mammalian metabolic product, homocarnitine, are transported by OCTN2, an important carnitine transporter. Moreover, both valerobetaine and homocarnitine inhibit carnitine transport, providing a mechanism to explain the systemic decrease in carnitine, global impairment of mitochondrial fatty acid oxidation, and association of valerobetaine with several pathophysiological processes, including obesity, hepatic steatosis, and cognitive decline. - Source: PubMed
Publication date: 2026/07/21
Weinberg JaclynJeon JenniferCrandall William JLee Choon-MyungJarrell Zachery RLim GahyunLee Ho YoungGo Young-MiJones Dean P - Psoriasis (PSO), atopic dermatitis (AD), and urticaria (URT) are chronic inflammatory skin diseases marked by severe pruritus. These conditions are frequently comorbid with psychiatric disorders, especially major depressive disorder (MDD). Despite this clinical overlap, the underlying shared genetic mechanisms driving these comorbidities remain largely unclear. - Source: PubMed
Publication date: 2026/07/09
Deng ChenWeiDing YiFanLi XiaojianQiu GuiRongLi ZhiquanSong Yu