Anti-RARS2 Antibody Picoband®

This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6) . Alternative splicing results in multiple transcript variants.

1. Edvardson, S., Shaag, A., Kolesnikova, O., Gomori, J. M., Tarassov, I., Einbinder, T., Saada, E., Elpeleg, O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am. J. Hum. Genet. 81: 857-862, 2007. 2. Li, Z., Schonberg, R., Guidugli, L., Johnson, A. K., Arnovitz, S., Yang, S., Scafidi, J., Summar, M. L., Vezina, G., Das, S., Chapman, K., del Gaudio, D. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J. Hum. Genet. 60: 363-369, 2015. 3. Rankin, J., Brown, R., Dobyns, W. B., Harington, J., Patel, J., Quinn, M., Brown, G. Pontocerebellar hypoplasia type 6: a British case with PEHO-like features. Am. J. Med. Genet. 152A: 2079-2084, 2010.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.