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Solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
Identifiers
Symbols SLC16A2; AHDS; DXS128; DXS128E; MCT7; MCT8; XPCT
External IDs OMIM300095 MGI1203732 HomoloGene39495 GeneCards: SLC16A2 Gene
RNA expression pattern
PBB GE SLC16A2 204462 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6567 20502
Ensembl ENSG00000147100 ENSMUSG00000033965
UniProt P36021 Q05BA2
RefSeq (mRNA) NM_006517 NM_009197
RefSeq (protein) NP_006508 NP_033223
Location (UCSC) Chr X:
73.56 - 73.67 Mb
Chr X:
99.9 - 100.02 Mb
PubMed search [1] [2]

Monocarboxylate transporter 8 (MCT8) is a protein that in humans is encoded by the SLC16A2 gene.[1][2][3][4]

Contents

Function

MCT8 transports a variety of iodo-thyronines including the thyroid hormones T3 and T4.[2]

Clinical significance

A genetic disorder (discovered in 2003[2] and 2004[5]) is caused by mutation in the transporter of thyroid hormone, MCT8, also known as SLC16A2, is believed to be account for a significant fraction of the undiagnosed neurological disorders (usually resulting in hypotonic/floppy infants with delayed milestones). This genetic defect was known as Allan-Herndon-Dudley syndrome (since 1944) without knowing its actual cause. Some of the symptoms for this disorder as are follows: normal to slightly elevated TSH, elevated T3 and reduced T4 (ratio of T3/T4 is about double its normal value). Normal looking at birth and for the first few years, hypotonic (floppy), in particular difficulty to hold the head, possibly difficulty to thrive, possibly with delayed myelination (if so, some cases are reported with an MRI pattern similar to Pelizaeus-Merzbacher disease, known as PMD[6]), possibly with decreased mitochondrial enzyme activities, possibly with fluctuating lactate level. Patients have an alert face, a limited IQ, patients may never talk/walk, 50% need feeding tube, patients have a normal life span. This disease can be ruled out with a simple TSH/T4/T3 thyroid test.

See also

References

  1. ^ Lafreniere RG, Carrel L, Willard HF (Jan 1995). "A novel transmembrane transporter encoded by the XPCT gene in Xq13.2". Hum Mol Genet 3 (7): 1133-9. PMID 7981683.  
  2. ^ a b c Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ (Oct 2003). "Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter". J Biol Chem 278 (41): 40128-35. doi:10.1074/jbc.M300909200. PMID 12871948.  
  3. ^ Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE (Jun 2005). "Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene". Am J Hum Genet 77 (1): 41-53. doi:10.1086/431313. PMID 15889350.  
  4. ^ "Entrez Gene: SLC16A2 solute carrier family 16, member 2 (monocarboxylic acid transporter 8)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6567.  
  5. ^ Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S (January 2004). "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene". Am. J. Hum. Genet. 74 (1): 168–75. doi:10.1086/380999. PMID 14661163.  
  6. ^ Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R (January 2009). "Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects". Ann. Neurol. 65 (1): 114–8. doi:10.1002/ana.21579. PMID 19194886.  

Further reading

  • Halestrap AP, Meredith D (2004). "The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond.". Pflugers Arch. 447 (5): 619–28. doi:10.1007/s00424-003-1067-2. PMID 12739169.  
  • Friesema EC, Jansen J, Heuer H, et al. (2006). "Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.". Nature clinical practice. Endocrinology & metabolism 2 (9): 512–23. doi:10.1038/ncpendmet0262. PMID 16957765.  
  • Grüters A (2007). "Thyroid hormone transporter defects.". Endocrine development 10: 118–26. doi:10.1159/0000106823. PMID 17684393.  
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.  
  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174.  
  • Price NT, Jackson VN, Halestrap AP (1998). "Cloning and sequencing of four new mammalian monocarboxylate transporter (MCT) homologues confirms the existence of a transporter family with an ancient past.". Biochem. J. 329 ( Pt 2): 321–8. PMID 9425115.  
  • Debrand E, Heard E, Avner P (1998). "Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.". Genomics 48 (3): 296–303. doi:10.1006/geno.1997.5173. PMID 9545634.  
  • Dumitrescu AM, Liao XH, Best TB, et al. (2004). "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.". Am. J. Hum. Genet. 74 (1): 168–75. doi:10.1086/380999. PMID 14661163.  
  • Friesema EC, Grueters A, Biebermann H, et al. (2004). "Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.". Lancet 364 (9443): 1435–7. doi:10.1016/S0140-6736(04)17226-7. PMID 15488219.  
  • Heuer H, Maier MK, Iden S, et al. (2005). "The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations.". Endocrinology 146 (4): 1701–6. doi:10.1210/en.2004-1179. PMID 15661862.  
  • Brockmann K, Dumitrescu AM, Best TT, et al. (2005). "X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.". J. Neurol. 252 (6): 663–6. doi:10.1007/s00415-005-0713-3. PMID 15834651.  
  • Friesema EC, Kuiper GG, Jansen J, et al. (2007). "Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism.". Mol. Endocrinol. 20 (11): 2761–72. doi:10.1210/me.2005-0256. PMID 16887882.  
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.  
  • Jansen J, Friesema EC, Kester MH, et al. (2007). "Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.". J. Clin. Endocrinol. Metab. 92 (6): 2378–81. doi:10.1210/jc.2006-2570. PMID 17356046.  
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