PDE6A

A gene on chromosome 5q31.2-q34 that encodes the alpha subunit of a herterotrimeric (one alpha, one beta and two gamma subunits) cyclic nucleotide phosphodiesterasem, which hydrolyses cGMP to 5'-GMP. Expressed in retinal rods, PDE6A is a key phototransduction enzyme in transmitting and amplifying visual signals.

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Gene Retina Pineal CNGB1 * * CYP4V2 * IMPDH1 * MERTK1 * NPHP1 * PDE6A * PED6B * * PRPH2 * * RDH12 * * RDS * RHO * ROM1 * * RPGR * SPATA7 * TOPORS * TULP1 * * USH2A * * CHR14 * SNRNP200 * Table 2 Age-related macular degeneration gene expression.

Retinal disorders and sleep disorders: are they genetically related?

Characterization of a canine modelo f autosomal recessive retinitis pigmentosa due to a PDE6A mutation.

Generalized progressive retinal atrophy in Cocker Spaniel dogs/Atrofia progressiva generalizada da retina em caes da raca Cocker Spaniel

CUMC and its teaching-hospital affiliate, New York-Presbyterian Hospital, are part of an international consortium that was recently formed to bring this PDE6A gene therapy to patients.

Novel treatments for retinitis pigmentosa edge toward clinical trials

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