Recombinant Human Monocarboxylate transporter 8 (SLC16A2), partial

1. MCT8 and TSHR form heteromers. PMID: 29290039
2. Our results highlight the potential role of MCT8 in thyroid hormone transport for human oligodendrocytes development and may implicate DITPA as a promising treatment for developmentally-regulated myelination in Allan-Herndon-Dudley syndrome PMID: 29111262
3. Our findings illustrate that different mutations affecting the same residue may have a differential impact on SLC16A2 transporter function, which translates into differences in severity of the clinical phenotype. PMID: 27805744
4. the aim of this study was to examine if MCT8 and MCT10 increase the availability of triiodothyronine for its nuclear receptor. PMID: 27492966
5. Data provide evidence for a role of the long N-terminus of MCT8 as target of ubiquitin-dependent proteasomal degradation affecting MCT8 amount and subsequently oligomerization capacity. PMID: 27222294
6. findings provide insights into Monocarboxylate transporter 8(MCT8) structure and function, which add to our understanding of the pathogenic mechanism of mutations found in patients who have Allan-Herndon-Dudley syndrome (AHDS) PMID: 28977587
7. Down-regulation of MCT8 in thyroid cancers qualifies MCT8 as a marker of thyroid differentiation. PMID: 28576880
8. MCT8 Mutation is associated with Allan-Herndon-Dudley Syndrome. PMID: 26426690
9. brain damage in MCT8 deficiency is diffuse, without evidence of focal lesions, and present from fetal stages despite apparent normality at birth PMID: 25222753
10. Specific mutations of MCT8 located in transmembrane helix 2 (del230F, V235M, and ins236V) increase the capacity of MCT8 variants to dimerize. PMID: 25527620
11. we report 4 Allan-Herndon-Dudley syndrome patients in unrelated Turkish families harboring novel MCT8 mutations PMID: 25247785
12. two SNPs in MCT8 were related to circulating thyroid hormone levels in men but not in women: the rs5937843 polymorphism (G/T) was inversely associated with FT4 levels and the rs6647476 (T/C) polymorphism related negatively to circulating FT3 PMID: 23978482
13. A reduction in MCT8 expression in the intrauterine growth retardation fetal brain could further compromise Thyroid hormone-dependent brain development. PMID: 24204008
14. We describe three new SLC16A2 mutations associated with different levels of clinical severity in patients with psychomotor retardation disorders. PMID: 23568789
15. Monocarboxylate transporter 8 modulates the viability and invasive capacity of human placental cells and fetoplacental growth in mice. PMID: 23776477
16. A boy with Allan-Herndon-Dudley syndrome and his heterozygous mother had a point mutation in exon 3 of the MCT8 gene 1201G>A:G401R which changes the properties of the protein. PMID: 23744248
17. MCT8 mutations in Allan-Herndon-Dudley Syndrome patients may have tissue-specific effects on thyroid hormone transport. PMID: 23550058
18. study reports a family with two patients affected by Allan-Herndon-Dudley syndrome in two consecutive generations with a c.670 G->A, p.A224 mutation in the MCT8 gene PMID: 23419639
19. 3 males patients with marked delayed brain myelination and in which the clinical picture was dominated by early onset nonparoxysmal extrapyramidal symptoms. In one subject a novel mutation is described. PMID: 22805248
20. Results indicate that His192 is sensitive to modification by DEPC and may be located close to a putative substrate recognition site within the MCT8 protein, important for efficient TH uptake. PMID: 23610131
21. Importance of cysteine residues in the thyroid hormone transporter MCT8. PMID: 23546606
22. This study indicates that MCT8 mutations are a relatively frequent cause of X-linked mental retardation. PMID: 22924588
23. nonsense mutation in MCT8 (c.1102A-->T (p.R368X)) was identified in the proband causing X-linked leucoencephalopathy PMID: 21415082
24. Our results implicate peripheral deiodination in the peculiar hormonal constellation of MCT8-deficient patients PMID: 21813593
25. From the early first trimester, immunohistochemistry localised MCT8 to the microvasculature and to undifferentiated CNS cells in the cerebral cortex. However, human NT2 cell neurodifferentiation is not dependent upon triiodothyronine or MCT8. PMID: 21486766
26. monocarboxylate transporter 8 facilitates bromoacetyl [(125)I] iodothyronine transport, but is not labeled by it PMID: 21315799
27. Group-by-genotype interactions for 2 highly correlated SNPs (rs496549 & rs479640) revealed co-localised association clusters in the left occipital cortex. PMID: 21208750
28. findings demonstrate a potential link between FUS mutations and cellular pathways involved in stress responses that may be relevant to altered motor neuron homeostasis in ALS PMID: 20705735
29. Increased monocarboxylate transporter 8 expression and intracellular T(3) accumulation may contribute to the altered T(3) responsiveness of IUGR cytotrophoblasts. PMID: 20660035
30. structural model and functional data PMID: 20628049
31. Data show that SLC16A2 involvement should be considered in males with learning disability, an associated motor or movement disorder, and evidence of delayed myelination on brain MRI. PMID: 19811520
32. Increased MCT8 and decreased MCT10 expression within placentae of pregnancies complicated by IUGR may contribute to aberrant development of the fetoplacental unit. PMID: 20167367
33. Thigh subcutaneous adipose tissue from subjects with familial partial lipodystrophy 2 has lower expression of MCT8 and activity than abdominal SAT, suggesting that changes in local thyroid hormone metabolism may occur in areas with lipoatrophy. PMID: 20373986
34. The finding that the cell type determines surface expression and T(3) transport activities of missense mutants in MCT8 may be important to understand phenotypic variability among carriers of different mutations. PMID: 19648159
35. Association between mutations in MCT8, a thyroid hormone transporter, and severe X-linked psychomotor retardation PMID: 15488219
36. MCT8 plays an important role for proper central nervous system development by transporting TH into neurons as its main target cells. PMID: 15661862
37. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. PMID: 15834651
38. Abnormal transporter function is reflected in elevated free triiodothyronine and lowered free thyroxine levels in the blood. Infancy and childhood in the Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced PMID: 15889350
39. hMCT8 mediates plasma membrane transport of iodothyronines, thus increasing their intracellular availability. PMID: 16887882
40. The SLC16A2 (formerly MCT8) gene is located on chromosome Xq13.2 and has recently been associated with a syndrome combining severe, X-linked, psychomotor retardation and high serum T3 levels. PMID: 16957765
41. findings support the hypothesis that the severe psychomotor retardation and elevated serum T3 hormone levels in these patients are caused by inactivation of the MCT8 transporter, preventing action and metabolism of T(3) in central neurons PMID: 17356046
42. MCT8 plays an important role in the development of the central nervous system by transporting thyroid hormone into neurons as its main target cells. (Review) PMID: 17684393
43. Mutants L434W, L568P, and S194F showed significant residual transport capacity, which may underlie the more advanced psychomotor development observed in patients with these mutations. PMID: 18187543
44. MCT10 is at least as active a thyroid hormone transporter as hMCT8, and that both transporters facilitate iodothyronine uptake as well as efflux. PMID: 18337592
45. Allan-Herndon-Dudley syndrome clinical features can be present in female MCT8 mutation carriers whenever there is unfavorable nonrandom X-inactivation. PMID: 18398436
46. abnormal brain development associated with MCT8 mutations may be the consequence of either decreased or increased intracellular 3,3',5-triiodothyronine concentrations. PMID: 18636565
47. Data report that in addition to neuronal expression, MCT8 mRNA and protein are expressed in cerebral microvessels in human. PMID: 18687783
48. The S107P single nucleotide polymorphism in SLC16A2, the gene encoding the thyroid hormone (TH)-specific transporter monocarboxylate transporter 8 (MCT8), is frequent in the male population in Galicia. PMID: 18710470
49. Data show that small interfering RNA depletion of endogenous MCT8 resulted in increased cell survival and decreased T(3) uptake. PMID: 19022891
50. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. PMID: 19194886

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HGNC: 10923

OMIM: 300095

KEGG: hsa:6567

STRING: 9606.ENSP00000276033

UniGene: Hs.75317