CLN6 - CLN6 transmembrane ER protein Gene

Also Known as nclf; CLN4A; CLN6A; HsT18960

Species: Homo sapiens

Gene Type: protein coding
Gene 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
Molecular Function GO Annotation Evidence References Source
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 References Source
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 References Source
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

CLN6: Ceroid-lipofuscinosis neuronal protein 6 (28 - 309)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CLN6 Q9NWW5 TEX264 Homo sapiens Q9Y6I9 32296183
Intra
CLN6 Q9NWW5 CISD2 Homo sapiens Q8N5K1 32296183
Intra
CLN6 Q9NWW5 CISD2 Homo sapiens Q8N5K1 32296183
Intra
CLN6 Q9NWW5 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
CLN6 Q9NWW5 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
CLN6 Q9NWW5 LRRC25 Homo sapiens Q8N386 32296183
Intra
CLN6 Q9NWW5 LRRC25 Homo sapiens Q8N386 32296183
Intra
CLN6 Q9NWW5 ARL13B Homo sapiens Q3SXY8 32296183
Intra
CLN6 Q9NWW5 ARL13B Homo sapiens Q3SXY8 32296183
Intra
CLN6 Q9NWW5 SLC22A23 Homo sapiens A1A5C7-2 32296183
Intra
CLN6 Q9NWW5 SLC22A23 Homo sapiens A1A5C7-2 32296183
Intra
CLN6 Q9NWW5 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
CLN6 Q9NWW5 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
CLN6 Q9NWW5 TMPRSS2 Homo sapiens O15393-2 32296183
Intra
CLN6 Q9NWW5 TMPRSS2 Homo sapiens O15393-2 32296183
Intra
CLN6 Q9NWW5 RIC3 Homo sapiens Q7Z5B4-5 32296183
Intra
CLN6 Q9NWW5 RIC3 Homo sapiens Q7Z5B4-5 32296183
Intra
CLN6 Q9NWW5 SLC30A4 Homo sapiens O14863 32296183
Intra
CLN6 Q9NWW5 SLC30A4 Homo sapiens O14863 32296183
Intra
CLN6 Q9NWW5 GJA8 Homo sapiens P48165 32296183
Intra
CLN6 Q9NWW5 GJA8 Homo sapiens P48165 32296183
Intra
CLN6 Q9NWW5 EVI2B Homo sapiens P34910-2 32296183
Intra
CLN6 Q9NWW5 EVI2B Homo sapiens P34910-2 32296183
Intra
CLN6 Q9NWW5 CPLX4 Homo sapiens Q7Z7G2 32296183
Intra
CLN6 Q9NWW5 CPLX4 Homo sapiens Q7Z7G2 32296183
Intra
CLN6 Q9NWW5 FAM209A Homo sapiens Q5JX71 32296183
Intra
CLN6 Q9NWW5 FAM209A Homo sapiens Q5JX71 32296183
Intra
CLN6 Q9NWW5 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
CLN6 Q9NWW5 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
CLN6 Q9NWW5 LIME1 Homo sapiens Q9H400 32296183
Intra
CLN6 Q9NWW5 LIME1 Homo sapiens Q9H400 32296183
Intra
CLN6 Q9NWW5 CLEC10A Homo sapiens Q8IUN9 32296183
Intra
CLN6 Q9NWW5 CLEC10A Homo sapiens Q8IUN9 32296183
Intra
CLN6 Q9NWW5 GORAB Homo sapiens Q5T7V8 32296183
Intra
CLN6 Q9NWW5 GORAB Homo sapiens Q5T7V8 32296183
Intra
CLN6 Q9NWW5 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
CLN6 Q9NWW5 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
CLN6 Q9NWW5 STX1A Homo sapiens Q16623 32296183
Intra
CLN6 Q9NWW5 STX1A Homo sapiens Q16623 32296183
Intra
CLN6 Q9NWW5 TMEM139 Homo sapiens Q8IV31 32296183
Intra
CLN6 Q9NWW5 TMEM139 Homo sapiens Q8IV31 32296183
Intra
CLN6 Q9NWW5 CLDN7 Homo sapiens O95471 32296183
Intra
CLN6 Q9NWW5 CLDN7 Homo sapiens O95471 32296183
Intra
CLN6 Q9NWW5 CD79A Homo sapiens P11912 32296183
Intra
CLN6 Q9NWW5 CD79A Homo sapiens P11912 32296183
Intra
CLN6 Q9NWW5 KIR2DL3 Homo sapiens P43628 32296183
Intra
CLN6 Q9NWW5 KIR2DL3 Homo sapiens P43628 32296183
Intra
CLN6 Q9NWW5 EBAG9 Homo sapiens O00559 32296183
Intra
CLN6 Q9NWW5 EBAG9 Homo sapiens O00559 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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

Orthologs Information

Species Symbol Source 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