Anti-PDE6 alpha/PDE6A Antibody Picoband® Fluoro550 Conjugated

This gene encodes the cyclic-GMP (cGMP) -specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa.

1. Corton, M., Blanco, M. J., Torres, M., Sanchez-Salorio, M., Carracedo, A., Brion, M. Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model. (Letter) Clin. Genet. 78: 495-498, 2010. 2. Khan, S. Y., Ali, S., Naeem, M. A., Khan, S. N., Husnain, T., Butt, N. H., Qazi, Z. A., Akram, J., Riazuddin, S., Ayyagari, R., Hejtmancik, J. F., Riazuddin, S. A. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. Molec. Vision 21: 871-882, 2015. 3. Tuntivanich, N., Pittler, S. J., Fischer, A. J., Omar, G., Kiupel, M., Weber, A., Yao, S., Steibel, J. P., Khan, N. W., Petersen-Jones, S. M. Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest. Ophthal. Vis. Sci. 50: 801-813, 2009.