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Photoreceptor cells are susceptible to cellular stress - their degeneration and loss is a major cause of blindness. Many genes have identified for the inherited and highly heterogeneous disorders resulting from photoreceptor degeneration. One of the most common form is retinitis pigmentosa (RP) and its patterns of inheritance are varied - some are autosomal dominant (adRP), others are autosomal recessive (arRP), a smaller fraction are X-linked (XLRP) and between 30 to 50% have not yet been class

Pathway Diagram:

Elsevier Inc. light --+> 11-cis-retinal cone opsins ---- transducin complex retinoid cycle metabolic pathway visual perception processing GTP cGMP_restored glutamate membrane hyperpolarization Grk1 ---| Rho Ca-in ---| Guca1b ca efflux --+> Guca1b GRK7 ---| cone opsins cone opsins --+> Gnat2 Gucy2f glutamate --+> rod bipolar cell glutamate --+> ON-cone bipolar cell membrane hyperpolarization ---| glutamate glutamate ---| OFF-cone bipolar cell Rgs9 complex ---| Gnat1 ca efflux ---| Rcvrn Ca-in --+> Rcvrn Rcvrn ---| Grk1 Gnat2 --+> Pde6 complex Gnat1 --+> Pde6 complex transducin complex GRK7 Cngb3 ---> Ca-in ca efflux ---> Ca-out Guca1a ---- Gucy2e cGMP_restored ---- Cnga3 cGMP_restored ---- Cngb3 Arr3 ---- cone opsins light 11-cis-retinal ---- cone opsins Rho ---- transducin complex 11-cis-retinal ---- Rho Rgs9 complex OFF-cone bipolar cell cone opsins Cnga3 ---> Ca-in ON-cone bipolar cell rod bipolar cell central nervous system 11-cis-retinal Ca-in ca efflux cGMP 5'-GMP Ca-out Grk1 Rcvrn Gnat1 Gnat2 Arr3 Gucy2e Guca1a Pde6 complex Rho Guca1b Sag Guca1a --+> Gucy2e Slc24a2 Slc24a1 Ca-in ---| Guca1a Cngb1 Cnga1 Cngb3 ca efflux --+> Guca1a Cnga3

Genes in Pathway:

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altered visual phototransduction pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga1 cyclic nucleotide gated channel alpha 1 JBrowse link 14 38,155,771 38,171,107 RGD:8547536
G Cngb1 cyclic nucleotide gated channel beta 1 JBrowse link 19 10,142,440 10,206,618 RGD:8547536
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 RGD:8547536
G Pde6a phosphodiesterase 6A JBrowse link 18 56,544,652 56,617,480 RGD:8547536
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:8547536
G Pde6g phosphodiesterase 6G JBrowse link 10 109,620,499 109,625,214 RGD:8547536
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:8547536
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:8547536

Pathway Gene Annotations

Disease Annotations Associated with Genes in the altered visual phototransduction pathway
Pathway Annotations Associated with Genes in the altered visual phototransduction pathway

References Associated with the altered visual phototransduction pathway:

Ontology Path Diagram:

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