PDE6A

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.
References in periodicals archive ?
Next-generation sequencing (NGS) was then applied to two affected family members with RP (III:9 and IV:1), who did not have CYP4V2 mutations, then to identify disease-causing variants in 47 RP-related genes including the PRPF31, CRB1, PRPF8, CA4, TULP1, PRPF3, ABCA4, RPE65, EYS, CERKL, NRL, FAM161A, FSCN2, TOPORS, SNRNP200, SEMA4A, PRCD, NR2E3, MERTK, USH2A, PDE6B, PROM1, KLHL7, PDE6A, RGR, CNGB1, IDH3B, SAG, GUCA1B, CNGA1, BEST1, TTC8, C2orf71, ARL6, IMPG2, PDE6G, ZNF513, DHDDS, PRPF6, CLRN1, MAK, CDHR1, FLVCR1, RLBP1, SPATA7, AIPL1, and LRAT genes.
PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family
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?
Pittler, "A PDE6A promoter fragment directs transcription predominantly in the photoreceptor," Biochemical and Biophysical Research Communications, vol.
Stimulation of neural stem cell proliferation by inhibition of phosphodiesterase 5
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
In the second study, the CUMC researchers tested whether gene therapy could be used to improve photoreceptor survival and neuronal function in mice with RP caused by a mutation to a gene called phosphodiesterase-alpha (Pde6a) --a common form of the disease in humans.
"These results provide support that RP due to PDE6a deficiency in humans is also likely to be treatable by gene therapy," Tsang said.
Novel treatments for retinitis pigmentosa edge toward clinical trials
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