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Phosphodiesterase 6A, cGMP-specific, rod, alpha

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. [provided by RefSeq, Jul 2008] (from NCBI)
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Papers on PDE6A
Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
Artemyev et al., Iowa City, United States. In J Biol Chem, 2011
Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.
Brion et al., In Clin Genet, 2010
the p.Val685Met mutation in PDE6A causes retinal degeneration in humans
Direct allosteric regulation between the GAF domain and catalytic domain of photoreceptor phosphodiesterase PDE6.
Cote et al., United States. In J Biol Chem, 2008
although Pgamma-mediated regulation plays the dominant role in visual excitation, the direct, inter-domain allosteric regulation may play a feedback role in light adaptational processes during phototransduction
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
Hejtmancik et al., Bethesda, United States. In Mol Vis, 2005
Homozygous single base pair change; c.889C->T, single base pair insertion; c.2218-2219insT, and single base pair substitution in the splice acceptor site; IVS10-2A->G in each of three families.
Asymmetric interaction between rod cyclic GMP phosphodiesterase gamma subunits and alphabeta subunits.
Ruoho et al., Madison, United States. In J Biol Chem, 2005
the unique Palphabeta heterodimer contributes to the sophisticated regulation in visual transduction through interaction with Pgamma
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