Anti-RARS2 Antibody Picoband® Biotin Conjugated

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.