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Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. Zusätzlich bieten wir Ihnen SLC22A5 Proteine (6) und viele weitere Produktgruppen zu diesem Protein an.
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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.
A homozygous stop variant in the SLC22A5 gene in a family with cardiomyopathy and sudden death history.
Elucidation of GM-CSF (zeige CSF2 Antikörper) signaling demonstrates that the cytokine causes the activation of mTOR (zeige FRAP1 Antikörper) kinase, leading to the phosphorylation and activation of STAT3 (zeige STAT3 Antikörper), which, in turn, is responsible for OCTN2 transcription.
dissociation of bound substrate from the transporter is rate limiting in establishing maximal rates of OCT2-mediated transport
It is postulated that ZO-1 (zeige TJP1 Antikörper), when not phosphorylated by PKC (zeige PRRT2 Antikörper), keeps Octn2 in an active state, while elimination of this binding in DeltaPDZ mutant or after ZO-1 (zeige TJP1 Antikörper) phosphorylation leads to diminution of Octn2 activity.
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.
Our results suggest that a common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD.
The local genotype influences methylation levels at SLC22A5 and ZPBP2 (zeige ZPBP2 Antikörper) promoters independently of the asthma status. Further studies are necessary to confirm the relationship between GSDMA (zeige GSDMA Antikörper)-ZPBP2 (zeige ZPBP2 Antikörper) and SLC22A5 methylation and asthma in females and males separately.
The results of the current study demonstrated that -207C>G polymorphism of the SLC22A5 gene is not associated with male infertility.
c.760C>T (p.R254X) mutation of the SLC22A5 gene is associated with the primary carnitine deficiency.
There was increased apoptosis in gut (zeige GUSB Antikörper) samples from OCTN2(-/-) mice.
Colon OCTN2 gene expression is up-regulated by peroxisome proliferator-activated receptor gamma (zeige PPARG Antikörper) in humans and mice and contributes to local and systemic carnitine homeostasis.
OCTN2, a transporter that is thought to be responsible for the accumulation of L-carnitine in the epididymal lumen, is regulated in response to changes in tonicity.
Mouse OCTN2 is a direct target gene of PPARalpha (zeige PPARA Antikörper) and transcriptional upregulation of OCTN2 by PPARalpha (zeige PPARA Antikörper) is likely mediated via PPRE1 in its first intron.
acetyl-L-carnitine is transported from blood to brain extracellular fluid by OCTN2
placental OCTN2 is obligatory for accumulation of carnitine in placenta & fetus, fatty acid beta-oxidation enzymes are expressed in placenta & reduced carnitine levels upregulate expression of short-chain L-3-hydroxyacyl CoA dehydrogenase (zeige HSD17B10 Antikörper) in placenta
Novel OCTN2 in mouse pancreas.
OCTN2 functions as a carnitine transporter between the epithelium and the lumen in distal corpus and cauda epididymides and provides a clue as to why obstructive azoospermia is induced in distal parts of epididymis.
These findings indicate that OCTN2 is predominantly responsible for the uptake of carnitine from the apical surface of mouse small intestinal epithelial cells.
PPAR alpha (zeige PPARA Antikörper)-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation
Dopamine transport across the olfactory and respiratory mucosae is partially mediated by organic cation transporters, including OCT-1 (zeige POU2F1 Antikörper) and OCT-2 (zeige SLC22A2 Antikörper). OCT-2 (zeige SLC22A2 Antikörper) was localized in the epithelial and submucosal regions of the nasal olfactory and respiratory mucosa
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy.
high-affinity sodium dependent carnitine cotransporter
, organic cation/carnitine transporter 2
, solute carrier family 22 member 5
, high-affinity sodium-dependent carnitine cotransporter
, juvenile visceral steatosis
, solute carrier family 22 (organic cation/carnitine transporter), member 5
, solute carrier family 22 (organic cation transporter), member 5
, solute carrier family 22, member 5
, high-affinity carnitine transporter
, integral membrane transport protein