RPE65 - retinoid isomerohydrolase RPE65 Gene

Also Known as p63; BCO3; LCA2; RP20; rd12; mRPE65; sRPE65

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6121

About RPE65

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:68,428,822-68,449,954 (from NCBI)

This gene has 1 transcript (splice variant), 273 orthologues, 2 paralogues and is associated with 10 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual Pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]

RPE65 Products (6)

mRNA	Protein	Name
NM_000329.3	NP_000320.1	retinoid isomerohydrolase isoform 1
NM_001406853.1	NP_001393782.1	retinoid isomerohydrolase isoform 2
NM_001406856.1	NP_001393785.1	retinoid isomerohydrolase isoform 3
NM_001406857.1	NP_001393786.1	retinoid isomerohydrolase isoform 3
NM_001406859.1	NP_001393788.1	retinoid isomerohydrolase isoform 4
NM_001406860.1	NP_001393789.1	retinoid isomerohydrolase isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	IDA IDA: Inferred from direct assay	25112876	GOA
enables isomerase activity	IDA IDA: Inferred from direct assay	28874556	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in detection of light stimulus involved in visual perception	IMP IMP: Inferred from mutant phenotype	15557452	GOA
involved in retina homeostasis	IMP IMP: Inferred from mutant phenotype	15557452	GOA
involved in retinoid metabolic process	IDA IDA: Inferred from direct assay	25112876	GOA
involved in zeaxanthin biosynthetic process	IDA IDA: Inferred from direct assay	28874556	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	29659842	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPE65 Protein Structure

RPE65

0
100
200
300
400
500
533 a.a.

Protein Preferred Names	Protein Names
retinoid isomerohydrolase	BCO family, member 3

RPE65 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RPE65	Q16518	CCT6B	Homo sapiens	Q92526	Anti Tag CoIP	33961781
Intra	RPE65	Q16518	CCT6B	Homo sapiens	Q92526	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

RPE65 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83565	RPE65 Antibody (YA3310)	WB, IP	Human, Mouse, Rat
HY-P87494	RPE65 Antibody (YA7182)	WB, IHC-P, IP, IF-Tissue	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 20	RP20 Retinitis Pigmentosa, Type 20
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Retinitis Pigmentosa 87 With Choroidal Involvement	RP87 Retinitis Pigmentosa 87 Retinitis Pigmentosa, Type 87, Choroidal Involvement
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Retinal Degeneration	Degeneration Of Retina
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Acth Deficiency, Isolated	Adrenocorticotropic Hormone Deficiency IAD Congenital Isolated Acth Deficiency Isolated Acth Deficiency Isolated Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone [Acth] Deficiency Secondary Adrenocortical Insufficiency
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Severe Early-Childhood-Onset Retinal Dystrophy	Eosrd Early-Onset Severe Retinal Dystrophy Secord Retinal Dystrophy, Early Onset Severe
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Retinitis
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Night Blindness	Nyctalopia
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Eye Degenerative Disease
Leber Congenital Amaurosis 14	LCA14 Retinitis Pigmentosa, Juvenile, Lrat-Related Retinal Dystrophy, Early-Onset Severe Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa Juvenile Lrat-Related Severe Early-Onset Retinal Dystrophy Lrat-Related Retinal Dystrophy, Early-Onset Severe, Lrat-Related Leber Congenital Amaurosis, Type 14
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Retinal Perforation	Retinal Break Retinal Perforations Retinal Dialysis Retinal Tear Retinal Break Nos Ruptured Retina
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Vitreous Disease	Disorder Of Vitreous Body
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Oliver-Mcfarlane Syndrome	Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome OMCS Long Eyelashes-Intellectual Disability Syndrome Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina Eyelashes, Long, With Mental Retardation Eyelashes Long Mental Retardation Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina Eyelashes, Long With Intellectual Disability Oliver Mcfarlane Syndrome Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature Trichomegaly, Retina Pigmentary Degeneration, Dwarfism Trichomegaly Retina Pigmentary Degeneration Dwarfism
Vitreoretinochoroidopathy	Autosomal Dominant Vitreoretinochoroidopathy Advirc Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2 Vitreoretinochoroidopathy Dominant VRCP Vitreoretinochoroidopathy, Autosomal Dominant Vrcp Autosomal Dominant Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Blood Group, Globoside System	Globe Disease GLOB Blood Group System, Globoside
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Macular Degeneration, Age-Related, 7	Age Related Macular Degeneration 7 ARMD7 Macular Degeneration, Age-Related, Neovascular Type Susceptibility To Neovascular Type Of Age-Related Macular Degeneration Macular Degeneration, Age-Related, Type 7
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Macular Holes	Macular Hole
Leber Congenital Amaurosis 12	LCA12 Leber Congenital Amaurosis, Type 12
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Physical Disorder	Physical Illness
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Kuhnt-Junius Degeneration	Neovascular Age-Related Macular Degeneration Exudative Senile Macular Degeneration Of Retina Senile Macular Degeneration, Wet Wet Senile Macular Retinal Degeneration Exudative Age-Related Macular Degeneration Exudative Macular Degeneration
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Vitreous Detachment	Posterior Vitreous Detachment Vitreous Syneresis
Macular Retinal Edema	Macular Edema Macular Oedema Macular Retinal Oedema Macular Edema, Cystoid
Familial Lipoprotein Lipase Deficiency	Familial Lpl Deficiency Familial Hyperchylomicronemia Hyperlipoproteinemia Type I Familial Hyperlipoproteinemia Type I Hyperchylomicronemia Burger-Grutz Syndrome Endogenous Hypertriglyceridaemia Familial Fat-Induced Hypertriglyceridemia Lipd Deficiency Lpl Deficiency Lipase D Deficiency Lipoprotein Lipase Deficiency, Familial Familial Chylomicronemia Syndrome Fredrickson Type I Hyperlipoproteinemia Fredrickson Type I Lipaemia Hypercholesterinaemic Xanthomatosis Mixed Hyperglyceridemia Lipoprotein Lipase Deficiency Type I Hyperlipoproteinemia Hyperlipoproteinemia Type Ia Familial Hyperlipo-Proteinemia Type 1
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Bietti Crystalline Corneoretinal Dystrophy	BCD Bietti Crystalline Dystrophy Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy Bietti Crystalline Retinopathy Bietti'S Crystalline Dystrophy Crystalline Retinopathy Dystrophy, Corneoretinal, Crystalline, Bietti
Hereditary Choroidal Atrophy	Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy	Choroidal Dystrophy, Central Areolar
Endophthalmitis
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
Pseudopapilledema
Adenosine Deaminase Deficiency	Ada Deficiency Ada-Scid Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency Adenosine Deaminase Deficient Severe Combined Immunodeficiency Scid Due To Ada Deficiency Severe Combined Immunodeficiency Due To Ada Deficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Ada Scid Due To Adenosine Deaminase Deficiency
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Sensory System Disease
Vitreoretinopathy, Neovascular Inflammatory	Proliferative Vitreoretinopathy Adniv Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy VRNI Pvr Neovascular Inflammatory Vitreoretinopathy Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant Retinitis Proliferans Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant Vitreoretinopathy Proliferative Vitreoretinopathy, Proliferative Proliferative Vitreo-Retinopathy
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Lens Disease	Lens Diseases
Cold-Induced Sweating Syndrome 3
Choroiditis	Posterior Uveitis
Uveal Disease	Uveal Diseases
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Retinitis Pigmentosa 50	RP50 Retinitis Pigmentosa, Concentric Retinitis Pigmentosa-50 Retinitis Pigmentosa Concentric
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Hemophilia B	Christmas Disease Factor Ix Deficiency F9 Deficiency HEMB Plasma Thromboplastin Component Deficiency Congenital Factor Ix Deficiency Mild Hemophilia B Severe Hemophilia B Congenital Factor Ix Disorder Deficiency, Functional Factor Ix Hem B Mild Congenital F9 Deficiency Mild Congenital Factor Ix Deficiency Moderate Hemophilia B Moderate Congenital F9 Deficiency Moderate Congenital Factor Ix Deficiency Severe Congenital F9 Deficiency Severe Congenital Factor Ix Deficiency Bleeding Disorder In Hemophilia B Carriers Congenital F9 Deficiency Recessive X-Linked Hemophilia B
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Aromatic L-Amino Acid Decarboxylase Deficiency	Aadc Deficiency Dopa Decarboxylase Deficiency Ddc Deficiency Aromatic Amino Acid Decarboxylase Deficiency Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AADCD Aromatic-L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency
Refractive Error	Refractive Errors
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Retinitis Pigmentosa 7	Leber Congenital Amaurosis 18 RP7 Retinitis Pigmentosa 7, Digenic Form Retinitis Pigmentosa 7 And Digenic Form Retinitis Pigmentosa 7, Digenic LCA18 Retinitis Pigmentosa 7 Digenic
Retinal Vascular Disease	Retinal Vascular Retinal Vascular Disorder Retina Circulation Disorder
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Nanophthalmos	Nanophthalmia
Exudative Vitreoretinopathy 1	Retinopathy Of Prematurity Retrolental Fibroplasia EVR1 Criswick-Schepens Syndrome Rop Exudative Vitreoretinopathy, Familial, Autosomal Dominant Fevr, Autosomal Dominant Premature Retinopathy Vitreoretinopathy, Exudative 1 Autosomal Dominant Familial Exudative Vitreoretinopathy Fevr Vitreoretinopathy, Exudative, Type 1 Retinopathy Of Prematurity Nos Rlf- [Retrolental Fibroplasia] Rop - [Retinopathy Of Prematurity] Terry Syndrome
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19720A	Emixustat hydrochloride	Inhibitor	99.29%	Phase 3

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19720	Emixustat		98.00%	Yes
HY-149325	RPE65-IN-1	Inhibitor	≥98.0%	Unkown
HY-119059	CU239	Inhibitor	/	Unkown
HY-175663	EYE-002	Inhibitor	/	Unkown
HY-175664	EYE-003	Inhibitor	/	Unkown
HY-RS12151	RPE65 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22780	Rpe65 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29294	Rpe65 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RPE65	VGNC	VGNC:34101
Macaca mulatta	RPE65	VGNC	VGNC:76721
Rattus norvegicus	RPE65	RGD	RGD:621396
Felis catus	RPE65	VGNC	VGNC:64731
Mus musculus	RPE65	MGD	MGI:98001
Canis familiaris	RPE65	VGNC	VGNC:45708
Others	RPE65	NCBI