SLC16A2
Solute carrier family 16, member 2 (monocarboxylic acid transporter 8) | |||||||||||
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Identifiers | |||||||||||
Symbols | SLC16A2 ; AHDS; DXS128; DXS128E; MCT7; MCT8; XPCT | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 39495 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE SLC16A2 204462 s at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Solute carrier family 16, member 2 (monocarboxylic acid transporter 8), also known as SLC16A2, is a human gene.[1]
See also
References
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.
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