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Single nucleotide polymorphism in SLC22A5 gene is associated with colorectal cancer.
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When endogenous OCTN2-mediated colistin transport was inhibited by co-incubation with L-carnitine, primary mouse proximal tubular cells were fully protected from colistin toxicity
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The OCTN2 carnitine transporter is essential for retaining carnitine in the body and allowing adequate supplies to the heart and the skeletal muscle, which derive most of their energy from fat. Mutations impairing its function result in carnitine deficiency that can present early in life with hypoketotic hypoglycemia, or later in life with cardiomyopathy and sudden death from cardiac arrhythmia. Review.
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A homozygous stop variant in the SLC22A5 gene in a family with cardiomyopathy and sudden death history.
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Elucidation of GM-CSF signaling demonstrates that the cytokine causes the activation of mTOR kinase, leading to the phosphorylation and activation of STAT3, which, in turn, is responsible for OCTN2 transcription.
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dissociation of bound substrate from the transporter is rate limiting in establishing maximal rates of OCT2-mediated transport
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It is postulated that ZO-1, when not phosphorylated by PKC, keeps Octn2 in an active state, while elimination of this binding in DeltaPDZ mutant or after ZO-1 phosphorylation leads to diminution of Octn2 activity.
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Results confirmed the diagnosis of eight patients with systemic primary carnitine deficiency (CDSP) on the gene level, including six mutations found in the solute carrier family 22 member 5 (SLC22A5) gene.
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Our results suggest that a common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD.
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The local genotype influences methylation levels at SLC22A5 and ZPBP2 promoters independently of the asthma status. Further studies are necessary to confirm the relationship between GSDMA-ZPBP2 and SLC22A5 methylation and asthma in females and males separately.
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The results of the current study demonstrated that -207C>G polymorphism of the SLC22A5 gene is not associated with male infertility.
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Functional activity of L-carnitine transporters in human airway epithelial cells.
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c.760C>T (p.R254X) mutation of the SLC22A5 gene is associated with the primary carnitine deficiency.
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Human OCTN2 expression is directly regulated by PPAR-alpha.
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Nine novel SLC22A5 gene mutations were identified and characterized in Chinese patients with Systemic primary carnitine deficiency CDSP. The R254X mutation was the most frequent, and it could likely be an ethnic founder mutation.
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A novel in-frame deletion (p.F23del), and a novel nonsense mutation (p.Q180X) result in primary carnitine deficiency.
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Mutation analysis of the gene SLC22A5 confirms the diagnosis of primary systemic carnitine deficiency.
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OCTN2 is involved in L-carnitine transport at the human BBB.
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Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency.
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promoter methylation is responsible for epigenetic down-regulation of OCTN2 in HepG2 and LS174T cells.
