Anti-Citrin/SLC25A13 Antibody Picoband® Fluoro647 Conjugated

Citrin also known as solute carrier family 25, member 13 (citrin) or SLC25A13 is a protein which in humans is encoded by the SLC25A13 gene. This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca (2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene.

Methyl-CpG-binding domain protein 4; Methyl-CpG-binding endonuclease 1; Methyl-CpG-binding protein MBD4; Mismatch-specific DNA N-glycosylase; MBD4; MED1

Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.

1. Fiermonte, G., Soon, D., Chaudhuri, A., Paradies, E., Lee, P. J., Krywawych, S., Palmieri, F., Lachmann, R. H. An adult with type 2 citrullinemia presenting in Europe. (Letter) New Eng. J. Med. 358: 1408-1409, 2008. 2. Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M. A., Kondo, I., Tsui, L.-C., Scherer, S. W., Saheki, T. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nature Genet. 22: 159-163, 1999. 3. Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., Iinuma, K., Saheki, T. Neonatal presentation of adult-onset type II citrullinemia. Hum. Genet. 108: 87-90, 2001.