Anti-TRNT1 Antibody Picoband® Fluoro550 Conjugated

TRNA-nucleotidyltransferase 1, is an enzyme that in humans is encoded by the TRNT1 gene. The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly (A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants.

Tricarboxylate transport protein, mitochondrial; Citrate transport protein; CTP; Solute carrier family 25 member 1; Tricarboxylate carrier protein; SLC25A1; SLC20A3

Detected in brain. Detected at very much lower levels in heart, lung, placenta and skeletal muscle. Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia.

Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate. Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD+ for the glycolytic pathway. Required for proper neuromuscular junction formation (Probable) .

1. Chakraborty, P. K., Schmitz-Abe, K., Kennedy, E. K., Mamady, H., Naas, T., Durie, D., Campagna, D. R., Lau, A., Sendamarai, A. K., Wiseman, D. H., May, A., Jolles, S., and 23 others. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) . Blood 124: 2867-2871, 2014. 2. DeLuca, A. P., Whitmore, S. S., Barnes, J., Sharma, T. P., Westfall, T. A., Scott, C. A., Weed, M. C., Wiley, J. S., Wiley, L. A., Johnston, R. M., Schnieders, M. J., Lentz, S. R., Tucker, B. A., Mullins, R. F., Scheetz, T. E., Stone, E. M., Slusarski, D. C. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum. Molec. Genet. 25: 44-56, 2016. 3. Lizano, E., Schuster, J., Muller, M., Kelso, J., Morl, M. A splice variant of the human CCA-adding enzyme with modified activity. J. Molec. Biol. 366: 1258-1265, 2007.