SLC16A2
From Wikipedia, the free encyclopedia
Solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
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Identifiers | ||||||||||||||
Symbol(s) | SLC16A2; AHDS; DXS128; DXS128E; MCT7; MCT8; XPCT | |||||||||||||
External IDs | OMIM: 300095 MGI: 1203732 HomoloGene: 39495 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 6567 | 20502 | ||||||||||||
Ensembl | ENSG00000147100 | ENSMUSG00000033965 | ||||||||||||
Uniprot | P36021 | Q05BA2 | ||||||||||||
Refseq | NM_006517 (mRNA) NP_006508 (protein) |
NM_009197 (mRNA) NP_033223 (protein) |
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Location | Chr X: 73.56 - 73.67 Mb | Chr X: 99.9 - 100.02 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Solute carrier family 16, member 2 (monocarboxylic acid transporter 8), also known as SLC16A2, is a human gene.[1]
[edit] See also
[edit] References
[edit] 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: . 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: . PMID 16957765.
- Grüters A (2007). "Thyroid hormone transporter defects.". Endocrine development 10: 118–26. doi: . 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: . 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: . 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: . 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: . 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: . 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: . 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: . 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: . 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: . 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: . PMID 17356046.