ABCA4 - ATP binding cassette subfamily A member 4 Gene

Also Known as FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 24

About ABCA4

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:93,992,834-94,121,148 (from NCBI)

This gene has 7 transcripts (splice variants), 290 orthologues, 11 paralogues and is associated with 9 phenotypes. Biased expression in kidney (RPKM 2.3), small intestine (RPKM 0.8) and 6 other tissues.

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Sep 2019]

ABCA4 Products (1)

mRNA	Protein	Name
NM_000350.3	NP_000341.2	retinal-specific phospholipid-transporting ATPase ABCA4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 11-cis retinal binding	IDA IDA: Inferred from direct assay	23144455	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	29847635	GOA
enables all-trans retinal binding	IDA IDA: Inferred from direct assay	20404325	GOA
enables flippase activity	IDA IDA: Inferred from direct assay	24097981	GOA
enables phosphatidylethanolamine flippase activity	IDA IDA: Inferred from direct assay	24097981	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phospholipid translocation	IDA IDA: Inferred from direct assay	24097981	GOA
involved in retinal metabolic process	IDA IDA: Inferred from direct assay	29847635	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	29847635	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	24097981	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

ABCA4 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
400
800
1200
1600
2000
2273 a.a.

Protein Preferred Names	Protein Names
retinal-specific phospholipid-transporting ATPase ABCA4	ATP binding cassette transporter

Related Diseases

Diseases	Alias
Macular Degeneration, Age-Related, 2	Age Related Macular Degeneration 2 ARMD2 Macular Degeneration, Senile Maculopathy, Age-Related, 2 Macular Degeneration, Age-Related, 2, Susceptibility To Macular Degeneration, Age-Related, Type 2
Cone-Rod Dystrophy 3	CORD3 Dystrophy, Cone Rod, Type 3
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Retinitis Pigmentosa 19	RP19 Retinitis Pigmentosa-19 Retinitis Pigmentosa, Type 19
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
Severe Early-Childhood-Onset Retinal Dystrophy	Eosrd Early-Onset Severe Retinal Dystrophy Secord Retinal Dystrophy, Early Onset Severe
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Isolated Macular Dystrophy
Vitreoretinal Degeneration
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
Vitreoretinopathy
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
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
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
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
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
Stargardt Disease 3	STGD3 Macular Dystrophy With Flecks, Type 3 Stargardt-Like Macular Dystrophy, Autosomal Dominant Macular Dystrophy Autosomal Dominant Chromosome 6-Linked Macular Dystrophy With Flecks Type 3 Stargardt-Like Macular Dystrophy Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked
Macular Dystrophy, Concentric Annular	Mcdca Maculopathy, Bull'S Eye
Retinitis Pigmentosa 91	Benign Concentric Annular Macular Dystrophy RP91 Macular Dystrophy, Concentric Annular, Formerly Mcdca, Formerly Macular Dystrophy, Benign Concentric Annular, Formerly Bcamd, Formerly Bcamd Macular Dystrophy, Benign Concentric Annular Macular Dystrophy, Concentric Annular Mcdca Retinitis Pigmentosa, Type 91
Retinitis
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
Retinal Degeneration	Degeneration Of Retina
Occult Macular Dystrophy	OCMD Omd Dystrophy, Macular, Occult
Hereditary Choroidal Atrophy	Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy	Choroidal Dystrophy, Central Areolar
Retinitis Pigmentosa 3	RP3 Retinitis Pigmentosa 15 Rp15 Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women Cone-Rod Degeneration, X-Linked Retinitis Pigmentosa Type 15 X-Linked Cone-Rod Degeneration X-Linked Retinitis Pigmentosa 3 Xlrp3 Xlrp-3 Retinitis Pigmentosa-3 Retinitis Pigmentosa, Type 3
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
Eye Degenerative Disease
Solar Retinopathy	Solar Retinitis
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
Haemonchiasis
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Night Blindness	Nyctalopia
Cone-Rod Dystrophy 12	CORD12 Dystrophy, Cone-Rod, Type 12
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
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
Toxoplasmosis	Disseminated Toxoplasmosis Multisystemic Disseminated Toxoplasmosis Acquired Toxoplasmosis Toxoplasmosis Disease Or Disorder Infection By Toxoplasma Gondii Toxoplasmal Toxoplasma
Toxic Maculopathy	Toxic Maculopathy Of Retina
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Retinochoroidal Atrophy PPCRA Pprca Atrophy, Chorioretinal, Pigmented Paravenous
Chorioretinal Scar	Chorioretinal Cicatrix Cicatrix Of Choroid Choroid Scar Macula Scar Macular Scarring Retinal Cicatrix Retinal Scar
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Basal Laminar Drusen	Drusen Of Bruch Membrane Drusen, Cuticular Drusen, Early Adult-Onset, Grouped Cuticular Drusen Early Adult-Onset Grouped Drusen BLD Drusen Cuticular Drusen Early Adult-Onset Grouped
Blue Cone Monochromacy	Blue Cone Monochromatism BCM Cbbm Color Blindness Blue Mono Cone Monochromatic Type Cone Dystrophy 5, X-Linked Colorblindness, Blue-Mono-Cone-Monochromatic Type Achromatopsia Incomplete X-Linked Incomplete Achromatopsia X-Linked X-Chromosome-Linked Achromatopsia X-Linked Achromatopsia Incomplete Atypical X-Linked Achromatopsia Color Blindness, Blue Monocone Monochromatic Type S Cone Monochromacy S Cone Monochromatism X-Linked Incomplete Achromatopsia Colorblindness Blue-Mono-Cone-Monochromatic Type Cone Dystrophy 5 COD5 Cone Dystrophy 5 X-Linked Monochromacy, Blue Cone Cone Monochromatism Achromatopsia Incomplete, X-Linked
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
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
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
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
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
Macular Degeneration, Age-Related, 4	Age Related Macular Degeneration 4 ARMD4 Macular Degeneration, Age-Related, Type 4
Albinism, Oculocutaneous, Type Ia	Oculocutaneous Albinism Type 1 OCA1A Oca1 Oculocutaneous Albinism, Tyrosinase-Negative Atn Tyrosinase-Negative Oculocutaneous Albinism Albinism I Oculocutaneous Albinism Type Ia Oculocutaneous Albinism Type 1a Oculocutaneous Albinism, Type I Albinism 1 Oculocutaneous Albinism, Tyrosinase Negative Albinism, Oculocutaneous, 1a Albinism Oculocutaneous Ia Oca-1a Oca-Ia Oculocutaneous Albinism Tyrosinase Negative Albinism, Oculocutaneous, Type I
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
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
Retinal Drusen
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
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Interval Angle-Closure Glaucoma	Intermittent Angle-Closure Glaucoma Angle-Closure Glaucoma, Subacute Prodromal Angle Closure Glaucoma
Alternating Exotropia	Exotropia
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Optic Disk Drusen	Optic Disc Drusen Drusen Of Optic Disc Optic Nerve Head Drusen Drusen Optic Disc
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Cone-Rod Dystrophy, X-Linked, 1	CORDX1 X-Linked Cone-Rod Dystrophy 1 Cod1 Cone Dystrophy X-Linked 1 X-Linked Cone Dystrophy 1 Cone-Rod Dystrophy X-Linked 1 Cone-Rod Dystrophy, X-Linked 1 Dystrophy, Cone-Rod, X-Linked, Type 1 Cone Dystrophy, X-Linked, 1
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
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
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
Hypolipoproteinemia	Hypolipoproteinaemia Lipoprotein Deficiencies Lipoprotein Disorder Hypolipoproteinemias Lipoprotein Lipoprotein Deficiency Hypolipidaemia Lipoprotein Deficiency Disorder High-Density Lipoid Deficiency High-Density Lipoprotein Deficiency Dyslipidaemia, Depressed Hdl Cholesterol
Sensory System Disease
Macular Retinal Edema	Macular Edema Macular Oedema Macular Retinal Oedema Macular Edema, Cystoid
Sorsby Fundus Dystrophy	SFD Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Sorsby'S Fundus Dystrophy Macular Dystrophy, Hemorrhagic Hemorrhagic Macular Dystrophy Pseudoinflammatory Fundus Dystrophy Of Sorsby Sorsby'S Pseudoinflammatory Macular Dystrophy Sorsby Pseudoinflammatory Fundus Dystrophy Dystrophy, Fundus, Sorsby
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
Nystagmus 3, Congenital, Autosomal Dominant	NYS3 Congenital Nystagmus 3 Autosomal Dominant Congenital Nystagmus 3
Macular Holes	Macular Hole
Refractive Error	Refractive Errors
Tangier Disease	Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type TGD High Density Lipoprotein Deficiency, Type 1 Hdldt1 Familial High Density Lipoprotein Deficiency A-Alphalipoprotein Neuropathy Alpha High Density Lipoprotein Deficiency Disease Cholesterol Thesaurismosis Familial High Density Lipoprotein Deficiency Disease Hdl Lipoprotein Deficiency Disease Tangier Disease Neuropathy Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency 1 Primary Hypoalphalipoproteinemia 1 Analphalipo-Proteinemia Familial Hypoalphalipo-Proteinemia Familial Hypoalphalipoproteinemia Lipoprotein Deficiency Disease, Hdl, Familial Tangier Hereditary Neuropathy Atp-Binding Cassette Transporter A1 Deficiency Hdld1 High Density Lipoprotein Deficiency 1 Tangier Disease, Variant Hypoalphalipoproteinemia, Familial Familial Hdl Deficiency
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Cbld Type, Variant 1 Methylmalonic Aciduria And Homocystinuria Type Cbld Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2 MAHCD Methylmalonic Acidemia And Homocystinuria, Cbld Type Methylmalonic Aciduria, Cblh Type, Formerly Methylmalonic Acidemia, Cblh Type, Formerly Methylmalonic Aciduria, Cbld Type, Variant 2 Cobalamin D Deficiency Methylcobalamin Deficiency Type Cbldv1 Functional Methionine Synthase Deficiency Type Cbldv1 Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2 Methylmalonic Acidemia With Homocystinuria, Type Cbld Cbld Defect Cobalamin D Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld Methylmalonic Aciduria With Homocystinuria, Type Cbld Homocystinuria Cbld Variant 1 Methylmalonic Acidemia And Homocystinuria Cbld Type Methylmalonic Aciduria And Homocystinuria Cbld-Combined Methylmalonic Aciduria And Homocystinuria Cbld Original Methylmalonic Aciduria Cbld Variant 2 Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Hypoalphalipoproteinemia, Primary, 1	Familial Hdl Deficiency Fha High Density Lipoprotein Deficiency Familial Hypoalphalipoproteinemia Hypoalphalipoproteinemia, Familial Hdld Fhd Hdl Deficiency, Type 2 Primary Hypoalphalipoproteinemia 1 Hdl Cholesterol, Low Serum Hdlc Hdl Deficiency, Familial, 1 Hypoalphalipoproteinemia, Primary Low Serum Hdl Cholesterol Primary Hypoalphalipoproteinemia FHA1 Hdld2 High Density Lipoprotein Deficiency 2 Hypoalphalipoproteinemias Apolipoprotein A-I Deficiency
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
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
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
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
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
Orofacial Cleft	Cleft, Orofacial
Nanophthalmos	Nanophthalmia
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W004500	All-trans-retinal	Inducer	99.56%	Unkown
HY-183032	ABC transporter modulator-1	Activator	96.30%	Unkown
HY-183033	ABC transporter modulator-2	Activator	96.89%	Unkown
HY-183034	ABC transporter modulator-3	Activator	97.0%	Unkown
HY-175664	EYE-003	Inhibitor	/	Unkown
HY-183035	ABC transporter modulator-4	Modulator	/	Unkown
HY-183036	ABC transporter modulator-5	Modulator	/	Unkown
HY-RS00042	ABCA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABCA4	VGNC	VGNC:59465
Rattus norvegicus	ABCA4	RGD	RGD:1309445
Macaca mulatta	ABCA4	VGNC	VGNC:69563
Canis familiaris	ABCA4	VGNC	VGNC:37427
Mus musculus	ABCA4	MGD	MGI:109424
Bos taurus	ABCA4	VGNC	VGNC:25458
Others	ABCA4	NCBI