
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
SLC16A2
Introduction
Solute carrier family 16, member 2 (monocarboxylic acid transporter 8), also known as SLC16A2, is a human gene.[1]
References
References
Further reading
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.
- Lafrenière RG, Carrel L, Willard HF (1995). “A novel transmembrane transporter encoded by the XPCT gene in Xq13.2”. Hum. Mol. Genet. 3 (7): 1133–9. PMID 7981683.
- 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.
- Friesema EC, Ganguly S, Abdalla A; et al. (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.
- 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. 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.
- Schwartz CE, May MM, Carpenter NJ; et al. (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.
- 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.
