RPE65 - retinoid isomerohydrolase RPE65 Gene

Homo sapiens

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

Gene ID: 6121 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Related Agents

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19720A	Emixustat hydrochloride		99.59%	Phase 3
HY-19720	Emixustat	Inhibitor	98.00%	Phase 3

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149325	RPE65-IN-1		≥98.0%	Unkown
HY-RS12151	RPE65 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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