SLC6A8 Antibody

1. Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport PMID: 28055022
2. The present study demonstrated that a novel CRT missense mutation in exon 12 of the SLC6A8 gene (c.1681G>C; p.G561R) causes suppression of creatine transport activity PMID: 28049948
3. Data suggest that a specific plasma membrane transporter, creatine transporter (SLC6A8), enables cells to incorporate creatine; creatine uptake is controlled by AMP-activated protein kinase, a ubiquitous sensor of energy depletion. [REVIEW] PMID: 26542286
4. both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency PMID: 24597975
5. Klotho protein up-regulates the activity of creatine transporter CreaT (Slc6A8) by stabilizing the carrier protein in the cell membrane PMID: 25531216
6. Both SPAK and OSR1 are negative regulators of the creatine transporter SLC6A8 PMID: 25531585
7. The SLC6A8 c.1654G>T (p.Val552Leu) variant showed low residual creatine uptake activity of 35% of wild type transfected HeLa cells. PMID: 25861866
8. In the titel. PMID: 25044748
9. Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment PMID: 24789340
10. It is likely that the (extracellular) structure of brain cells is also impaired in SLC6A8-deficient patients, and future studies are necessary to confirm this and to reveal the true functions of creatine in the brain. PMID: 24962355
11. CTR4 and CTR5 are possible regulators of the creatine transporter since their overexpression results in upregulated CTR1 protein and creatine uptake. PMID: 24561156
12. Combination of deep sequencing technology with long-range PCR revealed a novel intragenic duplication in the SLC6A8 gene, providing a definitive molecular diagnosis of creatine transporter deficiency in a male patient. PMID: 24140398
13. Creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar mental retardation and diagnostic screening of them should always include screening for SLC6A8 deficiency. PMID: 24137762
14. a de novo mutation in the SLC6A8 gene in 101 males with X-linked creatine transporter deficiency PMID: 23644449
15. study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels. PMID: 23578822
16. a 1104 bp sequence proximal to the mRNA start site of the SLC6A8 gene with promoter activity in five cell types was identified. PMID: 24144841
17. SLC6A8 mutants displayed no electrogenic activity with all Cr analogs tested in X. laevis oocytes. PMID: 22644605
18. report the first two Spanish adult patients with creatine transporter deficiency and compare their clinical phenotype and the evolution of the disease with those of other published cases PMID: 19319661
19. Missense mutations in SLC6A8 gene is associated with X-linked disorder. PMID: 22281021
20. analysis of X-linked creatine transporter defect in nine boys shows that it has an effect on IQ PMID: 21556832
21. impact of creatine deficiency syndrome mutations, CRTR and GAMT on metabolic stress was analyzed in patient fibroblast cultures PMID: 21140503
22. Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability. PMID: 21267006
23. symptoms of the creatine transporter defect (mental retardation, learning difficulties, and constipation) can be present in female SLC6A8 heterozygotes PMID: 20528887
24. SLC6A8 genes may not be directly involved in human male infertility PMID: 21190923
25. Heterozygous SLC6A8 deficiency is a potentially treatable condition and should be considered in females with intractable epilepsy and developmental delay/intellectual disabilit PMID: 20846889
26. Hemizygosity for a novel deletion producing a frameshift (c.974_975delCA, p.Thr325SerfsX139) in the creatine transporter gene is associated with X-linked cerebral creatine deficiency. PMID: 20602486
27. Guanidinoacetate is transported from AGAT- to GAMT-expressing cells through SLC6A8 to allow creatine synthesis, thereby explaining creatine deficiency in SLC6A8-deficient CNS. PMID: 19879361
28. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 PMID: 11898126
29. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. PMID: 12210795
30. High prevalence of SLC6A8 deficiency in X-linked mental retardation PMID: 15154114
31. involvement of residues from transmembrane domain 3 is a common feature of the substrate pathway of the creatine transporter PMID: 16049011
32. Creatine transporter deficiency associated with gene deficiency of this protein. PMID: 16086185
33. Mutations in the creatine transporter gene SLC6A8 may be a relatively major contributor in males with mental retardation of unknown cause. PMID: 16738945
34. Exhibition of a developmental apraxia of speech with motor planning and execution deficit in a creatine transporter (SLC6A8) mutation. PMID: 17603797
35. identified two brothers with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene PMID: 18350323
36. A novel deletion (c.1690-1703 del) in exon 12 of SLC6A8 resulted in a frameship mutation associated with global developmental delay and premature ventricular beats. PMID: 18443316
37. This study reveals the presence of a novel SLC6A8 splice variant, SLC6A8C in human and mouse. PMID: 18515020
38. The frequency of SLC6A8 deficiency was 2.3% in 157 males at risk. PMID: 19188083
39. The estimated amount of total creatine in the placenta and brain significantly increased in the second half of pregnancy, coinciding with a significant increase in expression of CrT mRNA. PMID: 19570237

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HGNC: 11055

OMIM: 300036

KEGG: hsa:6535

STRING: 9606.ENSP00000253122

UniGene: Hs.540696