CLN3 - CLN3 lysosomal/endosomal transmembrane protein, battenin Gene

Also Known as BTS; BTN1; JNCL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1201

About CLN3

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:28,466,653-28,492,082 (from NCBI)

This gene has 62 transcripts (splice variants), 193 orthologues and is associated with 5 phenotypes. Ubiquitous expression in placenta (RPKM 23.0), colon (RPKM 17.0) and 25 other tissues.

Summary

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as Other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

CLN3 Products (6)

mRNA	Protein	Name
NM_000086.2	NP_000077.1	battenin isoform a
NM_001042432.2	NP_001035897.1	battenin isoform a
NM_001286104.2	NP_001273033.1	battenin isoform b
NM_001286105.2	NP_001273034.1	battenin isoform c
NM_001286109.2	NP_001273038.1	battenin isoform d
NM_001286110.2	NP_001273039.1	battenin isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables glycolipid binding	IDA IDA: Inferred from direct assay	18317235	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12134079	GOA
enables sulfatide binding	IDA IDA: Inferred from direct assay	18317235	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi to lysosome transport	IMP IMP: Inferred from mutant phenotype	18817525	GOA
involved in L-arginine transmembrane transport	IDA IDA: Inferred from direct assay	16251196	GOA
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	10924275	GOA
involved in glycerophospholipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	17482562	GOA
involved in glycolipid transport	IMP IMP: Inferred from mutant phenotype	18317235	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	11722572	GOA
involved in lysosomal lumen pH elevation	IDA IDA: Inferred from direct assay	10924275	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	15240864	GOA
involved in receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	15471887	GOA
involved in regulation of cellular response to osmotic stress	IMP IMP: Inferred from mutant phenotype	23840424	GOA
involved in regulation of cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	20850431	GOA
involved in regulation of fibroblast migration	IMP IMP: Inferred from mutant phenotype	20850431	GOA
involved in regulation of protein processing	IMP IMP: Inferred from mutant phenotype	10924275	GOA
involved in vesicle transport along microtubule	IMP IMP: Inferred from mutant phenotype	22261744	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	10332042	GOA
located in Golgi apparatus	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	9949212	GOA
located in Golgi stack	IDA IDA: Inferred from direct assay	15240864	GOA
located in caveola	IDA IDA: Inferred from direct assay	15240864	GOA
located in caveola	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10191116	GOA
located in early endosome	IDA IDA: Inferred from direct assay	15240864	GOA
located in early endosome membrane	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10191111	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	12706816	GOA
located in late endosome	IDA IDA: Inferred from direct assay	10332042	GOA
located in late endosome	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	9384607	GOA
located in lysosomal membrane	IMP IMP: Inferred from mutant phenotype	15598649	GOA
located in lysosome	IDA IDA: Inferred from direct assay	10332042	GOA
located in lysosome	IMP IMP: Inferred from mutant phenotype	14644441	GOA
located in membrane	IDA IDA: Inferred from direct assay	10191112	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	15240864	GOA
located in membrane raft	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	10332042	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10191116	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10191116	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	14644441	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	15240864	GOA
located in synaptic vesicle	IDA IDA: Inferred from direct assay	10332042	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	10332042	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

CLN3 Protein Structure

CLN3

0
100
200
300
400
438 a.a.

Protein Preferred Names	Protein Names
battenin	CLN3, battenin

Related Diseases

Diseases	Alias
Ceroid Lipofuscinosis, Neuronal, 3	Batten Disease Juvenile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 3 CLN3 Jncl Spielmeyer-Vogt Disease Vogt-Spielmeyer Disease Spielmeyer-Sjogren Disease Cln3 Disease Neuronal Ceroid Lipofuscinosis, Juvenile Cln3 Disease, Juvenile Spielmeyer Sjogren Disease Vogt Spielmeyer Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Cln3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Disease Juvenile Cerebroretinal Degeneration Classic Juvenile Ncl Classic Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 3
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
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
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
Neuronal Ceroid-Lipofuscinoses	Infantile Neuronal Ceroid Lipofuscinosis Santavuori Disease Hagberg-Santavuori Disease Incl Infantile Ncl Santavuori-Haltia Disease Neuronal Ceroid-Lipofuscinosis, Infantile Lipofuscin Storage Disease Neuronal Ceroid Lipofuscinoses Juvenile Neuronal Ceroid Lipofuscinosis
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Ceroid Lipofuscinosis, Neuronal, 2	Jansky-Bielschowsky Disease Neuronal Ceroid Lipofuscinosis 2 CLN2 Lincl Cln2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset Cln2 Disease, Juvenile Cln2 Disease, Late Infantile Late-Infantile Batten Disease Neuronal Ceroid Lipofuscinosis, Late-Infantile Classic Late Infantile Ncl Classic Late Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 2 Late-Infantile Neuronal Ceroid Lipfuscinosis
Retinal Degeneration	Degeneration Of Retina
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Ceroid Lipofuscinosis, Neuronal, 13	Neuronal Ceroid Lipofuscinosis 13 CLN13 Neuronal Ceroid Lipofuscinosis 13 Kufs Type Cln13 Disease Lipofuscinosis, Ceroid, Neuronal, Type 13
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Northern Epilepsy Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant Epmr Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type Northern Epilepsy Syndrome Epilepsy, Progressive, With Mental Retardation Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant Progressive Epilepsy With Mental Retardation, Northern Epilepsy Cln8 Disease, Northern Epilepsy Variant Ncl, Northern Epilepsy Variant Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant CLN8NE Ceroid Lipofuscinosis, Neuronal, 8
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Ceroid Lipofuscinosis, Neuronal, 11	Neuronal Ceroid Lipofuscinosis 11 CLN11 Cln11 Disease Grn-Related Neuronal Ceroid-Lipofuscinosis Lipofuscinosis, Ceroid, Neuronal, Type 11
Ceroid Lipofuscinosis, Neuronal, 10	Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Neuronal Ceroid Lipofuscinosis 10 CLN10 Cathepsin D Deficiency Congenital Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient Cln10 Disease Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient Cln10 Disease, Adult Cln10 Disease, Congenital Cln10 Disease, Juvenile Cln10 Disease, Late Infantile Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis Congenital Ncl Lipofuscinosis, Ceroid, Neuronal, Type 10 Neuronal Ceroid Lipofuscinosis, Congenital
Unverricht-Lundborg Syndrome	Unverricht-Lundborg Disease Epm1 Myoclonic Epilepsy Of Unverricht And Lundborg Myoclonus Progressive Epilepsy Of Unverricht And Lundborg Unverricht - Lundborg Disease Unverricht'S Disease Epilepsy, Progressive Myoclonic Type 1 Epilepsy, Progressive Myoclonus 1 Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonus Baltic Myoclonus Epilepsy Lundborg-Unverricht Syndrome Mediterranean Myoclonic Epilepsy Pme Progressive Myoclonic Epilepsy Progressive Myoclonus Epilepsy 1 Uld Myoclonic Epilepsies, Progressive
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Progressive Myoclonus Epilepsy 3	Cln14 Disease Epm3 Neuronal Ceroid Lipofuscinosis 14 Pme Type 3 Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency Progressive Myoclonus Epilepsy Type 3 Epilepsy, Progressive Myoclonic 3
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Glycoproteinosis	Sialidosis Mucolipidosis Type I Mucolipidoses Cherry Red Spot Myoclonus Syndrome Mucolipidosis I Myoclonus Cherry Red Spot Syndrome Type I Mucolipidosis Lipomucopolysaccharidosis Disorders Of Glycoprotein Metabolism Glycoprotein Storage Disorder
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Hermansky-Pudlak Syndrome 6	HPS6 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 6 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Gangliosidosis	Gangliosidoses
Mucolipidosis
Fucosidosis	Alpha-L-Fucosidase Deficiency Fucosidase Deficiency Disease A-Fucosidase Deficiency Alpha Fucosidase Deficiency Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues Alpha-Fucosidase Deficiency Fucosidase Deficiency FUCA1D
Ceroid Lipofuscinosis, Neuronal, 7	CLN7 Neuronal Ceroid Lipofuscinosis 7 Cln7 Disease Cln7 Disease, Late Infantile Mfsd8-Related Neuronal Ceroid Lipofuscinosis Turkish Variant Late Infantile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 7
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Mannosidosis, Alpha B, Lysosomal	Alpha-Mannosidosis Lysosomal Alpha-D-Mannosidase Deficiency Deficiency Of Alpha-Mannosidase Alpha-Mannosidase B Deficiency Mannosidosis MANSA Mannosidosis, Alpha-, Types I And Ii Alpha-D-Mannosidosis Alpha-Mannosidase Deficiency Α-Mannosidosis Alpha Mannosidase B Deficiency Mannosidosis, Alpha B Lysosomal Lysosomal Alpha B Mannosidosis Alpha-Mannosidosis, Infantile Form Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form Alpha-Mannosidosis, Adult Form Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form Alpha-Mannosidosis Types I And Ii Mannosidase Deficiency Diseases
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
C Syndrome	Opitz Trigonocephaly Syndrome Trigonocephaly Trigonocephaly Syndrome Trigonocephaly C Syndrome Opitz C Trigonocephaly Opitz Trigonocephaly C Syndrome Otcs CSYN
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Spinocerebellar Ataxia, Autosomal Recessive 7	SCAR7 Autosomal Recessive Spinocerebellar Ataxia 7 Spinocerebellar Ataxia Autosomal Recessive 7 Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Autosomal Recessive Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia, Autosomal Recessive, 7 Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Sphingolipidosis	Sphingolipidoses
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Cystinosis	Cystine Storage Disease Cystine Diathesis Cystine Disease Cystinoses Protein Defect Of Cystin Transport Cystin Transport, Protein Defect Of Nephropathic Cystinosis Protein Defect Of Cystine Transport
Cenani-Lenz Syndactyly Syndrome	Syndactyly Type 7 Cenani Syndactylism Cenani-Lenz Syndactyly CLSS Syndactyly Cenani Lenz Type Cenani-Lenz Syndrome Syndactyly, Type Vii Cenani-Lenz Type Syndactyly Cenani Syndactyly Syndactyly Type Vii
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
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
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02822	CLN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22121	Cln3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28643	Cln3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CLN3	RGD	RGD:1359537
Mus musculus	CLN3	MGD	MGI:107537