Anti-RARS2 Antibody Picoband® 0,00647 Vervoeging

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.

RARS2; RARSL; Probable arginine--tRNA ligase, mitochondrial; EC 6.1.1.19; Arginyl-tRNA synthetase; ArgRS

RARS2

57038

Q5T160

Human, Mouse, Rat

No cross-reactivity with other proteins

E.coli-derived human RARS2 recombinant protein (Position: M1-R560) . Human RARS2 shares 86.1% amino acid (aa) sequence identity with mouse RARS2.

Flow Cytometry

Immunogen affinity purified.

Liquid

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. Avoid repeated freezing and thawing. Protect from light.

66 kDa

6

Arginyl-tRNA synthetase 2, mitochondrial

Probable arginine--tRNA ligase, mitochondrial

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.