retinoid isomerohydrolase (retinol isomerase)

catalyzes the isomerization of all trans-retinol to 11-cis-retinol in the dark; found in the pigment epithelium in the eye; also converts all-trans-retinyl esters to 11-cis-retinol

Also Known As:

retinol isomerase; RPE65 protein, human; RPE65 protein, zebrafish; RPE65c protein, zebrafish; Rpe65 protein, mouse; Rpe65 protein, rat; retinal pigment epithelium 65 protein, human; retinal pigment epithelium 65 protein, mouse; retinal pigment epithelium 65 protein, rat; retinal pigment epithelium specific 65 kDa protein, zebrafish; retinal pigment epithelium-specific protein 65c protein, zebrafish; retinal pigment epithelium-specific protein, human; retinoid isomerase

Networked: 17 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Isomerases: 463
    - cis-trans-Isomerases: 44
      - retinoid isomerohydrolase: 17

Experts

1.	Jacobson, Samuel G: 4 articles (08/2015 - 09/2007)
2.	Fu, Yingbin: 3 articles (01/2020 - 06/2012)
3.	Bok, Dean: 2 articles (08/2015 - 07/2014)
4.	Hu, Jane: 2 articles (08/2015 - 07/2014)
5.	Jin, Minghao: 2 articles (08/2015 - 07/2014)
6.	Li, Songhua: 2 articles (08/2015 - 07/2014)
7.	Baehr, Wolfgang: 2 articles (03/2014 - 06/2012)
8.	Redmond, T Michael: 2 articles (03/2014 - 09/2007)
9.	Zhang, Tao: 2 articles (01/2014 - 06/2012)
10.	Aleman, Tomas S: 2 articles (06/2009 - 09/2007)

Related Diseases

1.	Retinal Dystrophies 12/16/2022 - "The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy" 09/28/2007 - "RPE65 is the visual cycle retinol isomerase and missense mutations in its gene cause severe retinal dystrophies in man, due to lack of chromophore. " 01/01/2021 - "A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)." 01/01/2014 - "Mutations in retinoid isomerase, RPE65, or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in early childhood. " 01/01/2017 - "These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by mutations to REP1, Rab escort protein 1; autosomal recessive Stargardt disease, caused by mutations to ABCA4, the photoreceptor-specific ATP-binding transporter; Usher 1B disease caused by mutations to MYO7A, myosin heavy chain 7; X-linked juvenile retinoschisis caused by mutations to RS1, retinoschisin; autosomal recessive retinitis pigmentosa caused by mutations to MERTK, the proto-oncogene tyrosine-protein kinase MER; Leber's hereditary optic neuropathy caused by mutations to ND4, mitochondrial nicotinamide adenine dinucleotide ubiquinone oxidoreductase (complex I) subunit 4 and achromatopsia, caused by mutations to CNGA3, cyclic nucleotide-gated channel alpha 3 and CNGB3, cyclic nucleotide-gated channel beta 3. This review includes a tabulated summary of treatments for these monogenic retinal dystrophies that have entered into clinical development, as well as a brief summary of the preclinical data that supported their advancement into clinical development."
2.	Color Vision Defects (Color Blindness) 03/04/2014 - "Retinol isomerase RPE65-deficient mice [a model of Leber congenital amaurosis (LCA) with rapid cone loss] and cone photoreceptor function loss type 1 mice (severe recessive achromatopsia) were used to determine whether suppressing TH signaling with antithyroid treatment reduces cone death. " 01/01/2017 - "These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by mutations to REP1, Rab escort protein 1; autosomal recessive Stargardt disease, caused by mutations to ABCA4, the photoreceptor-specific ATP-binding transporter; Usher 1B disease caused by mutations to MYO7A, myosin heavy chain 7; X-linked juvenile retinoschisis caused by mutations to RS1, retinoschisin; autosomal recessive retinitis pigmentosa caused by mutations to MERTK, the proto-oncogene tyrosine-protein kinase MER; Leber's hereditary optic neuropathy caused by mutations to ND4, mitochondrial nicotinamide adenine dinucleotide ubiquinone oxidoreductase (complex I) subunit 4 and achromatopsia, caused by mutations to CNGA3, cyclic nucleotide-gated channel alpha 3 and CNGB3, cyclic nucleotide-gated channel beta 3. This review includes a tabulated summary of treatments for these monogenic retinal dystrophies that have entered into clinical development, as well as a brief summary of the preclinical data that supported their advancement into clinical development."
3.	Retinoschisis (Retinoschisis, Juvenile) 01/01/2017 - "These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by mutations to REP1, Rab escort protein 1; autosomal recessive Stargardt disease, caused by mutations to ABCA4, the photoreceptor-specific ATP-binding transporter; Usher 1B disease caused by mutations to MYO7A, myosin heavy chain 7; X-linked juvenile retinoschisis caused by mutations to RS1, retinoschisin; autosomal recessive retinitis pigmentosa caused by mutations to MERTK, the proto-oncogene tyrosine-protein kinase MER; Leber's hereditary optic neuropathy caused by mutations to ND4, mitochondrial nicotinamide adenine dinucleotide ubiquinone oxidoreductase (complex I) subunit 4 and achromatopsia, caused by mutations to CNGA3, cyclic nucleotide-gated channel alpha 3 and CNGB3, cyclic nucleotide-gated channel beta 3. This review includes a tabulated summary of treatments for these monogenic retinal dystrophies that have entered into clinical development, as well as a brief summary of the preclinical data that supported their advancement into clinical development."
4.	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/01/2017 - "These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by mutations to REP1, Rab escort protein 1; autosomal recessive Stargardt disease, caused by mutations to ABCA4, the photoreceptor-specific ATP-binding transporter; Usher 1B disease caused by mutations to MYO7A, myosin heavy chain 7; X-linked juvenile retinoschisis caused by mutations to RS1, retinoschisin; autosomal recessive retinitis pigmentosa caused by mutations to MERTK, the proto-oncogene tyrosine-protein kinase MER; Leber's hereditary optic neuropathy caused by mutations to ND4, mitochondrial nicotinamide adenine dinucleotide ubiquinone oxidoreductase (complex I) subunit 4 and achromatopsia, caused by mutations to CNGA3, cyclic nucleotide-gated channel alpha 3 and CNGB3, cyclic nucleotide-gated channel beta 3. This review includes a tabulated summary of treatments for these monogenic retinal dystrophies that have entered into clinical development, as well as a brief summary of the preclinical data that supported their advancement into clinical development."
5.	Choroideremia 01/01/2017 - "These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by mutations to REP1, Rab escort protein 1; autosomal recessive Stargardt disease, caused by mutations to ABCA4, the photoreceptor-specific ATP-binding transporter; Usher 1B disease caused by mutations to MYO7A, myosin heavy chain 7; X-linked juvenile retinoschisis caused by mutations to RS1, retinoschisin; autosomal recessive retinitis pigmentosa caused by mutations to MERTK, the proto-oncogene tyrosine-protein kinase MER; Leber's hereditary optic neuropathy caused by mutations to ND4, mitochondrial nicotinamide adenine dinucleotide ubiquinone oxidoreductase (complex I) subunit 4 and achromatopsia, caused by mutations to CNGA3, cyclic nucleotide-gated channel alpha 3 and CNGB3, cyclic nucleotide-gated channel beta 3. This review includes a tabulated summary of treatments for these monogenic retinal dystrophies that have entered into clinical development, as well as a brief summary of the preclinical data that supported their advancement into clinical development."

Related Drugs and Biologics

1.	Cyclic Nucleotide-Gated Cation Channels
2.	Myosin Heavy Chains (Myosin Heavy Chain)
3.	Ubiquinone
4.	Proteins (Proteins, Gene)
5.	Protein-Tyrosine Kinases (Tyrosine Kinase)
6.	Oxidoreductases (Dehydrogenase)
7.	NAD (NADH)
8.	Adenosine Triphosphate (ATP)
9.	c-Mer Tyrosine Kinase
10.	lecithin-retinol acyltransferase

Related Therapies and Procedures

1.	Therapeutics