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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. phosphatidylcholine light --+> 11-cis-retinal Rdh12 11-cis-retinal ---> all-trans-retinal light 11-cis-retinal NADH NAD+ 11-cis-retinol retinyl ester retinol all-trans-retinal NADP+ NADPH ATP ADP Rbp1 ---- retinol 11-cis-retinal ---- cone opsins cone opsins Rdh8 Rbp1 Rdh10 Rdh5 Rdh11 NAD+ ---> NADH 11-cis-retinol ---> 11-cis-retinal NADPH ---> NADP+ all-trans-retinal ---> retinol Rlbp1 Abca4 Rbp3 Lrat Rpe65 11-cis-retinal ---- Rho visual phototransduction pathway Rho

Genes in Pathway:

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altered retinoid cycle metabolic pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8547536
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:8547536
G Rbp3 retinol binding protein 3 JBrowse link 16 10,277,775 10,286,243 RGD:8547536
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:8547536
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:8547536
G Rpe65 RPE65, retinoid isomerohydrolase JBrowse link 2 266,141,581 266,169,197 RGD:8547536

Pathway Gene Annotations

Disease Annotations Associated with Genes in the altered retinoid cycle metabolic pathway
Disease TermsGene Symbols
adrenocorticotropic hormone deficiencyRpe65
age related macular degenerationAbca4
age related macular degeneration 2Abca4
Autoimmune DiseasesRbp3
basal cell carcinomaRpe65
blindnessAbca4 , Rpe65
Bothnia retinal dystrophyRlbp1
breast ductal carcinomaLrat
Chemical and Drug Induced Liver InjuryLrat
cleft lipAbca4
Colorectal NeoplasmsAbca4
cone dystrophyAbca4
cone-rod dystrophyAbca4 , Rpe65
cone-rod dystrophy 3Abca4
congenital stationary night blindnessAbca4 , Rbp3
Diabetes Mellitus, Experimental Rpe65
Experimental Autoimmune UveitisRpe65
Experimental Liver CirrhosisLrat
eye diseaseRdh12
fundus albipunctatusRlbp1
fundus dystrophyAbca4 , Lrat , Rbp3 , Rdh12 , Rlbp1 , Rpe65
genetic diseaseAbca4
hepatocellular carcinomaLrat
Hereditary Eye DiseasesLrat , Rlbp1 , Rpe65
Leber congenital amaurosisAbca4 , Lrat , Rdh12 , Rpe65
Leber congenital amaurosis 13Rdh12
Leber congenital amaurosis 14Lrat
Leber congenital amaurosis 2Rpe65
Leber hereditary optic neuropathyLrat , Rdh12 , Rpe65
macular degenerationAbca4
Macular Dystrophy, Concentric AnnularAbca4
Mandibulofacial Dysostosis with Mental DeficiencyAbca4
Newfoundland cone-rod dystrophyRlbp1
night blindnessRlbp1
peripheral nervous system diseaseAbca4
retinal degenerationAbca4 , Rdh12 , Rpe65
retinal diseaseAbca4
Retinal Dystrophy, Early Onset SevereAbca4
retinitis pigmentosaAbca4 , Lrat , Rbp3 , Rdh12 , Rlbp1 , Rpe65
retinitis pigmentosa 19Abca4
retinitis pigmentosa 20Rpe65
retinitis pigmentosa 66Rbp3
squamous cell carcinomaRpe65
Stargardt diseaseAbca4
Stargardt Disease 1Abca4
Vision DisordersAbca4
Vitamin A DeficiencyLrat
Pathway Annotations Associated with Genes in the altered retinoid cycle metabolic pathway

References Associated with the altered retinoid cycle metabolic pathway:

Ontology Path Diagram:

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