Anti-SLC25A19 Antibody Picoband® Fluoro488 Conjugated

Mitochondrial thiamine pyrophosphate carrier is a protein that in humans is encoded by the SLC25A19 gene. This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene.

A synthetic peptide corresponding to a sequence at the N-terminus of human SLC25A19, which shares 87.5% and 81.25% amino acid (aa) sequence identity with mouse and rat SLC25A19, respectively.

1. Dolce, V., Fiermonte, G., Runswick, M. J., Palmieri, F., Walker, J. E. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. Proc. Nat. Acad. Sci. 98: 2284-2288, 2001. 2. Iacobazzi, V., Ventura, M., Fiermonte, G., Prezioso, G., Rocchi, M., Palmieri, F. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC) . Cytogenet. Cell Genet. 93: 40-42, 2001. 3. Lindhurst, M. J., Fiermonte, G., Song, S., Struys, E., De Leonardis, F., Schwarzberg, P. L., Chen, A., Castegna, A., Verhoeven, N., Mathews, C. K., Palmieri, F., Biesecker, L. G. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc. Nat. Acad. Sci. 103: 15927-15932, 2006.