CLN6 - CLN6 transmembrane ER protein Gene

Also Known as nclf; CLN4A; CLN6A; HsT18960

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 54982

About CLN6

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:68,206,992-68,257,215 (from NCBI)

This gene has 25 transcripts (splice variants), 192 orthologues and is associated with 6 phenotypes. Ubiquitous expression in bone marrow (RPKM 12.1), colon (RPKM 10.8) and 25 other tissues.

Summary

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

CLN6 Products (2)

mRNA	Protein	Name
NM_001411068.1	NP_001397997.1	ceroid-lipofuscinosis neuronal protein 6 isoform 2
NM_017882.3	NP_060352.1	ceroid-lipofuscinosis neuronal protein 6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables lysophosphatidic acid binding	IDA IDA: Inferred from direct assay	18317235	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17237713	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15010453	GOA
enables sulfatide binding	IDA IDA: Inferred from direct assay	18317235	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	16857350	GOA
involved in ganglioside metabolic process	IMP IMP: Inferred from mutant phenotype	16857350	GOA
involved in glycosaminoglycan metabolic process	IMP IMP: Inferred from mutant phenotype	16857350	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	11722572	GOA
involved in positive regulation of proteolysis	IMP IMP: Inferred from mutant phenotype	15010453	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in early endosome	IDA IDA: Inferred from direct assay	17237713	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15265688	GOA
located in endoplasmic reticulum lumen	IDA IDA: Inferred from direct assay	15010453	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	17237713	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

CLN6 Protein Structure

CLN6

0
100
200
311 a.a.

Protein Preferred Names	Protein Names
ceroid-lipofuscinosis neuronal protein 6	ceroid-lipofuscinosis neuronal 6 late infantile

CLN6 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CLN6	Q9NWW5	TEX264	Homo sapiens	Q9Y6I9	Validated Y2H	32296183
Intra	CLN6	Q9NWW5	CISD2	Homo sapiens	Q8N5K1	Y2H Array	32296183
Intra	CLN6	Q9NWW5	CISD2	Homo sapiens	Q8N5K1	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	CLN6	Q9NWW5	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	LRRC25	Homo sapiens	Q8N386	Y2H Array	32296183
Intra	CLN6	Q9NWW5	LRRC25	Homo sapiens	Q8N386	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	CLN6	Q9NWW5	SLC22A23	Homo sapiens	A1A5C7-2	Y2H Array	32296183
Intra	CLN6	Q9NWW5	SLC22A23	Homo sapiens	A1A5C7-2	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	FNDC9	Homo sapiens	Q8TBE3	Y2H Array	32296183
Intra	CLN6	Q9NWW5	FNDC9	Homo sapiens	Q8TBE3	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	TMPRSS2	Homo sapiens	O15393-2	Y2H Array	32296183
Intra	CLN6	Q9NWW5	TMPRSS2	Homo sapiens	O15393-2	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	RIC3	Homo sapiens	Q7Z5B4-5	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	RIC3	Homo sapiens	Q7Z5B4-5	Y2H Array	32296183
Intra	CLN6	Q9NWW5	SLC30A4	Homo sapiens	O14863	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	SLC30A4	Homo sapiens	O14863	Y2H Array	32296183
Intra	CLN6	Q9NWW5	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	CLN6	Q9NWW5	EVI2B	Homo sapiens	P34910-2	Y2H Array	32296183
Intra	CLN6	Q9NWW5	EVI2B	Homo sapiens	P34910-2	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	CPLX4	Homo sapiens	Q7Z7G2	Y2H Array	32296183
Intra	CLN6	Q9NWW5	CPLX4	Homo sapiens	Q7Z7G2	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	CLN6	Q9NWW5	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	CYBC1	Homo sapiens	Q9BQA9	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	CYBC1	Homo sapiens	Q9BQA9	Y2H Array	32296183
Intra	CLN6	Q9NWW5	LIME1	Homo sapiens	Q9H400	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	LIME1	Homo sapiens	Q9H400	Y2H Array	32296183
Intra	CLN6	Q9NWW5	CLEC10A	Homo sapiens	Q8IUN9	Y2H Array	32296183
Intra	CLN6	Q9NWW5	CLEC10A	Homo sapiens	Q8IUN9	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	GORAB	Homo sapiens	Q5T7V8	Y2H Array	32296183
Intra	CLN6	Q9NWW5	GORAB	Homo sapiens	Q5T7V8	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	CLN6	Q9NWW5	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	STX1A	Homo sapiens	Q16623	Y2H Array	32296183
Intra	CLN6	Q9NWW5	STX1A	Homo sapiens	Q16623	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	TMEM139	Homo sapiens	Q8IV31	Y2H Array	32296183
Intra	CLN6	Q9NWW5	TMEM139	Homo sapiens	Q8IV31	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	CLDN7	Homo sapiens	O95471	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	CLDN7	Homo sapiens	O95471	Y2H Array	32296183
Intra	CLN6	Q9NWW5	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	CLN6	Q9NWW5	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	KIR2DL3	Homo sapiens	P43628	Y2H Prey Pooling	32296183
Intra	CLN6	Q9NWW5	KIR2DL3	Homo sapiens	P43628	Y2H Array	32296183
Intra	CLN6	Q9NWW5	EBAG9	Homo sapiens	O00559	Y2H Array	32296183
Intra	CLN6	Q9NWW5	EBAG9	Homo sapiens	O00559	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Ceroid Lipofuscinosis, Neuronal, 6a	Neuronal Ceroid Lipofuscinosis 6 CLN6 Vlincl Cln6 Disease Ceroid Lipofuscinosis, Neuronal, 6 Late-Infantile Neuronal Ceroid Lipofuscinosis CLN6A Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant Neuronal Ceroid Lipofuscinosis 6a Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset Cln6 Disease, Adult Kufs Type A Cln6 Disease, Late Infantile Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant Ceroid Lipofuscinosis Neuronal 6 Cln6-Related Neuronal Ceroid Lipofuscinosis Late Infantile Neuronal Ceroid Lipofuscinosis Jansky-Bielschowsky Disease Lincl Late Infantile Ncl Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant Lipofuscinosis, Ceroid, Neuronal, Type 6 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6b	CLN4A Neuronal Ceroid Lipofuscinosis 4a CLN6B Neuronal Ceroid Lipofuscinosis 6b Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4a Cln4a Disease Ceroid Lipofuscinosis, Neuronal, 4a , Autosomal Recessive Adult Neuronal Ceroid Lipofuscinosis Cln6 Disease Kufs Type A Kufs Disease Kufs Disease Autosomal Recessive Kufs Disease, Autosomal Recessive
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Adult Neuronal Ceroid Lipofuscinosis	Ancl Adult Ncl Kufs Disease Cln4 Disease, Adult Autosomal Dominant Kuf'S Disease Neuronal Ceroid Lipofuscinosis 4
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
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
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
Ceroid Lipofuscinosis, Neuronal, 11	Neuronal Ceroid Lipofuscinosis 11 CLN11 Cln11 Disease Grn-Related Neuronal Ceroid-Lipofuscinosis Lipofuscinosis, Ceroid, Neuronal, Type 11
Spastic Ataxia	Spax Ataxia, Spastic
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
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
Ceroid Lipofuscinosis, Neuronal, 13	Neuronal Ceroid Lipofuscinosis 13 CLN13 Neuronal Ceroid Lipofuscinosis 13 Kufs Type Cln13 Disease Lipofuscinosis, Ceroid, Neuronal, Type 13
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
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
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
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
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Visual Epilepsy	Seizures Epilepsy, Visual Visual Seizure Acute Symptomatic Seizure Provoked Seizure Nonepileptic Seizure Disorder Uncontrolled Seizures Seizure Nos Fits Nos Onset Seizure Nos Seizure Disturbance
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
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
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]
Mucopolysaccharidosis, Type Iiib	Mucopolysaccharidosis Type Iiib MPS3B Naglu Deficiency Mps Iiib Sanfilippo Syndrome B N-Acetyl-Alpha-D-Glucosaminidase Deficiency Mpsiiib Mucopoly-Saccharidosis Type 3b Mucopolysaccharidosis Type 3b N-Acetyl-Alpha-Glucosaminidase Deficiency Sanfilippo Syndrome Type B Mps Iii B Mps 3b Mps Iii-B Mucopolysaccharidosis 3b
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
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
Spinal Muscular Atrophy, Type I	Werdnig-Hoffmann Disease SMA1 Spinal Muscular Atrophy 1 Sma I Sma, Infantile Acute Form Muscular Atrophy, Infantile Spinal Muscular Atrophy-1 Hmn Proximal Type I Infantile Muscular Atrophy Proximal Spinal Muscular Atrophy Type 1 Sma Type 1 Sma Type I Sma-I Hereditary Motor Neuropathy Proximal Type I Progressive Muscular Atrophy Of Infancy Proximal Spinal Muscular Atrophy, Type 1 Werdnig Hoffmann Disease Infantile Spinal Muscular Atrophy Infantile-Onset Spinal Muscular Atrophy Proximal Hereditary Motor Neuropathy Type I Sma Infantile Acute Form Spinal Muscular Atrophy Type I Werdnig-Hoffman Disease Atrophy, Muscular, Spinal, Type 1
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
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Jankovic-Rivera Syndrome SMAPME Sma-Pme Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome Hereditary Myoclonus With Progressive Distal Muscular Atrophy Jankovic Rivera Syndrome Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy Myoclonus Hereditary Progressive Distal Muscular Atrophy Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
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
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
Gangliosidosis	Gangliosidoses
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
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Mucolipidosis
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
Neonatal Period Electroclinical Syndrome
Childhood Spinal Muscular Atrophy	Spinal Muscular Atrophies Of Childhood Survival Motor Neuron Spinal Muscular Atrophy
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS02824	CLN6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22123	Cln6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28645	Cln6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	CLN6	VGNC	VGNC:39351
Mus musculus	CLN6	MGD	MGI:2159324
Bos taurus	CLN6	VGNC	VGNC:27453
Felis catus	CLN6	VGNC	VGNC:60968
Macaca mulatta	CLN6	VGNC	VGNC:82126
Rattus norvegicus	CLN6	RGD	RGD:1309714
Others	CLN6	NCBI