Anti-GNAO1 Antibody Picoband®

Guanine nucleotide-binding protein G (o) subunit alpha is a protein that in humans is encoded by the GNAO1 gene. The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene.

Widely expressed. Isoform 1 and isoform 2 are expressed at higher level in brain and skeletal muscle. Isoform 7 is found in brain and spleen, isoform 10 is widely expressed but found at lower level in heart, kidney, liver and lung.

Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N1-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal.

1. Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., Strober, J., Willing, M., Schlaggar, B. L., Wu, Y. W., Bernstein, J. A. Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder. Pediat. Neurol. 59: 81-84, 2016. 2. Danti, F. R., Galosi, S., Romani, M., Montomoli, M., Carss, K. J., Raymond, F. L., Parrini, E., Bianchini, C., McShane, T., Dale, R. C., Mohammad, S. S., Shah, U., and 9 others. GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome. Neurol. Genet. 3: e143, 2017. Note: Electronic Article. 3. Feng, H., Sjogren, B., Karaj, B., Shaw, V., Gezer, A., Neugib, R. R. Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. Neurology 89: 762-770, 2017.

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.