Mitochondrial thiamine pyrophosphate carrier
(Redirected from SLC25A19)
| SLC25A19 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC25A19, DNC, MCPHA, MUP1, THMD3, THMD4, TPC, solute carrier family 25 member 19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606521; MGI: 1914533; GeneCards: SLC25A19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mitochondrial thiamine pyrophosphate carrier is a protein that in humans is encoded by the SLC25A19 gene.[5][6][7]
Clinical significance
[edit]Mutations in the SLC25A19 gene are responsible for amish lethal microcephaly.[8]
See also
[edit]References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000125454 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020744 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F (July 2001). "Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC)". Cytogenetics and Cell Genetics. 93 (1–2): 40–42. doi:10.1159/000056945. PMID 11474176. S2CID 44985945.
- ↑ Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE (March 2001). "The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals". Proceedings of the National Academy of Sciences of the United States of America. 98 (5): 2284–2288. Bibcode:2001PNAS...98.2284D. doi:10.1073/pnas.031430998. PMC 30130. PMID 11226231.
- ↑ "Entrez Gene: SLC25A19 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19".
- ↑ Tabarki B, Thabet F, Alfadhel M (1993). "SLC25A19-Related Thiamine Metabolism Dysfunction". In Adam MP, Bick S, Mirzaa GM, Pagon RA (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301539. Retrieved 2026-07-31.
Further reading
[edit]- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, et al. (September 2002). "Mutant deoxynucleotide carrier is associated with congenital microcephaly". Nature Genetics. 32 (1): 175–179. doi:10.1038/ng948. PMID 12185364. S2CID 23768596.
- Ota T, Suzuki Y, Nishikawa T, et al. (January 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
- Carrisi C, Antonucci D, Lunetti P, Migoni D, Girelli CR, Dolce V, et al. (January 2014). "Transport of platinum bonded nucleotides into proteoliposomes, mediated by Drosophila melanogaster thiamine pyrophosphate carrier protein (DmTpc1)". Journal of Inorganic Biochemistry. 130: 28–31. doi:10.1016/j.jinorgbio.2013.09.012. PMID 24148759.
- Lam W, Chen C, Ruan S, Leung CH, Cheng YC (February 2005). "Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake". Molecular Pharmacology. 67 (2): 408–416. doi:10.1124/mol.104.007120. PMID 15539640. S2CID 25269301.
- Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, et al. (2005). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Research. 12 (2): 117–126. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, et al. (October 2006). "Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia". Proceedings of the National Academy of Sciences of the United States of America. 103 (43): 15927–15932. Bibcode:2006PNAS..10315927L. doi:10.1073/pnas.0607661103. PMC 1595310. PMID 17035501.
- Iacopetta D, Carrisi C, De Filippis G, Calcagnile VM, Cappello AR, Chimento A, et al. (March 2010). "The biochemical properties of the mitochondrial thiamine pyrophosphate carrier from Drosophila melanogaster". The FEBS Journal. 277 (5): 1172–1181. doi:10.1111/j.1742-4658.2009.07550.x. PMID 20121944. S2CID 24140143.
External links
[edit]- GeneReviews/NCBI/NIH/UW entry on Amish Lethal Microcephaly
- OMIM entries on Amish Lethal Microcephaly
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