SLC22A5 Antibody

1. 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 PMID: 28986476
2. 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. PMID: 26828774
3. A homozygous stop variant in the SLC22A5 gene in a family with cardiomyopathy and sudden death history. PMID: 28295041
4. 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. PMID: 27733576
5. dissociation of bound substrate from the transporter is rate limiting in establishing maximal rates of OCT2-mediated transport PMID: 28615288
6. 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. PMID: 28257821
7. 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. PMID: 28186590
8. Our results suggest that a common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD. PMID: 26965072
9. 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. PMID: 26671913
10. The results of the current study demonstrated that -207C>G polymorphism of the SLC22A5 gene is not associated with male infertility. PMID: 26370461
11. c.760C>T (p.R254X) mutation of the SLC22A5 gene is associated with the primary carnitine deficiency. PMID: 26252091
12. Human OCTN2 expression is directly regulated by PPAR-alpha. PMID: 25299939
13. 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. PMID: 25132046
14. A novel in-frame deletion (p.F23del), and a novel nonsense mutation (p.Q180X) result in primary carnitine deficiency. PMID: 23379544
15. Mutation analysis of the gene SLC22A5 confirms the diagnosis of primary systemic carnitine deficiency. PMID: 22260907
16. OCTN2 is involved in L-carnitine transport at the human BBB. PMID: 23877104
17. Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency. PMID: 25119904
18. promoter methylation is responsible for epigenetic down-regulation of OCTN2 in HepG2 and LS174T cells. PMID: 24146874
19. The OCTN2 transporter is generally down-regulated in virus and nonvirus-mediated epithelial cancers, probably via methylation of its promoter region. PMID: 22374795
20. Besides the dramatic decrease of free carnitine, carnitine ester metabolism is affected in OCTN2 deficiency in a family with a deletion of 844C of the SLC22A5 gene PMID: 19238580
21. SLC22A5 is an estrogen-dependent gene regulated via a newly identified intronic estrogen response element. PMID: 22212555
22. Findings indicate that etoposide can inhibit hOCTN2 function, potentially disturb carnitine homeostasis. PMID: 22389472
23. OCTN2 polymorphisms were not significantly associated with either cancer risk or progression. PMID: 21793125
24. Fibroblasts from asymptomatic women have on average higher levels of residual carnitine transport activity as compared to that of symptomatic patients due to the presence of at least one missense SLC22A5 mutation. PMID: 21922592
25. There is not any significant correlation of SLC22A5 polymorphisms with Crohn's disease. PMID: 22118696
26. Carnitine organic cation transporters 2 downregulation is associated with ulcerative colitis. PMID: 21910182
27. impaired plasma membrane targeting of the D122Y and K302E-hOCTN2 variants that occur in Singaporean populations contributes to decreased carnitine influx. PMID: 21864509
28. the whole expression level of OCTN2 messenger RNA at the inflamed mucosa was significantly reduced compared to noninflamed areas, both in Crohn's Disease and ulcerative colitis patients PMID: 21287663
29. OCTN1 and OCTN2 both transport oxaliplatin and are functionally expressed by dorsal root ganglion neurons. PMID: 21606177
30. Under hypoxic conditions, placental OCTN2 is down-regulated through PPARalpha-mediated pathways. PMID: 21125992
31. OCTN2 mutations are associated with primary carnitine deficiency. PMID: 21126579
32. The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having Systemic primary carnitine deficiency. PMID: 20574985
33. analysis of plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes PMID: 19735486
34. has functional sites for carnitine and Na(+) and carnitine-binding site is involved, in part, in the recognition of organic cations PMID: 12183691
35. novel missense mutations in the OCTN2 gene (1340A >G and 83G>T) were found in two Saudi patients with sytemic carnitine deficiency PMID: 12408185
36. Demonstration that l-carnitine uptake in differentiated Caco-2 cells is primarily mediated by OCTN2, located on the brush border membrane PMID: 12684216
37. downregulated in elderly persons and in myelodysplastic syndrome patients; reduction was more than 85% compared to younger adults PMID: 12802501
38. multiple domains of the OCTN2 transporter are required for carnitine transport PMID: 14506273
39. tyrosine residues are involved in coupling the sodium electrochemical gradient to transmembrane solute transfer in the sodium-dependent co-transporter OCTN2 PMID: 14665638
40. a G-->C transversion in trhe promoter of SLC22A5 is associated with Crohn disease PMID: 15107849
41. The reported properties of OCTN2 resemble those observed for l-carnitine uptake in placental brush border vesicles, suggesting that OCTN2 may mediate most maternofetal carnitine transport in humans. PMID: 15238359
42. truncating R254X mutation in the OCTN2 gene found in a Saudi Arabian kindred suggesting that it may be a recurrent mutation or a very ancient founder mutation PMID: 15303004
43. OCTN2 is localized in the apical membrane of syncytiotrophoblasts, suggesting a major role in the uptake of carnitine during fetal development. PMID: 15486076
44. homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter in children with cardiomyopathy and decreased plasma carnitine PMID: 15487009
45. Carnitine transport by OCTN2 requires functional linkage between transmembrane domains (TMD) 1-7 and TMD11. PMID: 15499185
46. Double transfection of OCTN2 with PDZK1 stimulated the uptake by OCTN2 of its endogenous substrate carnitine. PMID: 15523054
47. 8 new mutations were found: V153fsX193, W275X, R289X, 1267del+3_+23, M1I, T232M, T468R. PMID: 15714519
48. OCTN2 is expressed in the human heart and can be modulated by drug administration. Moreover, OCTN2 can contribute to the cardiac uptake of cardiovascular drugs PMID: 16490820
49. none of the 4 haplotypes present in the SLC22A4/SLC22A5 region in 5q31 showed significant association with rheumatoid arthritis in our Spanish cohort PMID: 16652416
50. Association of type 1 diabetes of single nucleotide polymorphism mapping to SLC22A5 gene. PMID: 16796743

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HGNC: 10969

OMIM: 212140

KEGG: hsa:6584

STRING: 9606.ENSP00000245407

UniGene: Hs.443572