1. Gene
  2. CLN6 - CLN6 transmembrane ER protein Gene

CLN6 - CLN6 transmembrane ER protein Gene

中文名称:CLN6 跨膜内质网蛋白

种属: Homo sapiens

同用名: nclf; CLN4A; CLN6A; HsT18960

基因 ID: 54982 | 基因类型: protein coding

关于 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.

功能概要

该基因是与神经元蜡样脂褐质沉积症 (NCL) 有关的八个基因之一。 NCL 也称为 Batten 病,包括一类影响儿童的常染色体隐性神经退行性疾病。负责的基因可能编码参与溶酶体中翻译后修饰蛋白质降解的蛋白质。 NCL 疾病的主要缺陷被认为与溶酶体储存功能有关。[RefSeq 提供,2008 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables lysophosphatidic acid binding IDA
IDA: 通过直接分析推断
18317235 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17237713 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
15010453 GOA
enables sulfatide binding IDA
IDA: 通过直接分析推断
18317235 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol metabolic process IMP
IMP: 通过突变表型推断
16857350 GOA
involved in ganglioside metabolic process IMP
IMP: 通过突变表型推断
16857350 GOA
involved in glycosaminoglycan metabolic process IMP
IMP: 通过突变表型推断
16857350 GOA
involved in lysosomal lumen acidification IMP
IMP: 通过突变表型推断
11722572 GOA
involved in positive regulation of proteolysis IMP
IMP: 通过突变表型推断
15010453 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome IDA
IDA: 通过直接分析推断
17237713 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15265688 GOA
located in endoplasmic reticulum lumen IDA
IDA: 通过直接分析推断
15010453 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
17237713 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CLN6 蛋白结构

CLN6

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

  • 0
  • 100
  • 200
  • 311 a.a.
蛋白主名 其他名称

ceroid-lipofuscinosis neuronal protein 6

ceroid-lipofuscinosis neuronal 6 late infantile

CLN6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CLN6 Q9NWW5 TEX264 Homo sapiens Q9Y6I9
Validated Y2H
32296183
种属内
CLN6 Q9NWW5 CISD2 Homo sapiens Q8N5K1
Y2H Array
32296183
种属内
CLN6 Q9NWW5 CISD2 Homo sapiens Q8N5K1
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 TMEM237 Homo sapiens Q96Q45-2
Y2H Array
32296183
种属内
CLN6 Q9NWW5 TMEM237 Homo sapiens Q96Q45-2
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 LRRC25 Homo sapiens Q8N386
Y2H Array
32296183
种属内
CLN6 Q9NWW5 LRRC25 Homo sapiens Q8N386
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 ARL13B Homo sapiens Q3SXY8
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 ARL13B Homo sapiens Q3SXY8
Y2H Array
32296183
种属内
CLN6 Q9NWW5 SLC22A23 Homo sapiens A1A5C7-2
Y2H Array
32296183
种属内
CLN6 Q9NWW5 SLC22A23 Homo sapiens A1A5C7-2
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 FNDC9 Homo sapiens Q8TBE3
Y2H Array
32296183
种属内
CLN6 Q9NWW5 FNDC9 Homo sapiens Q8TBE3
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 TMPRSS2 Homo sapiens O15393-2
Y2H Array
32296183
种属内
CLN6 Q9NWW5 TMPRSS2 Homo sapiens O15393-2
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 RIC3 Homo sapiens Q7Z5B4-5
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 RIC3 Homo sapiens Q7Z5B4-5
Y2H Array
32296183
种属内
CLN6 Q9NWW5 SLC30A4 Homo sapiens O14863
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 SLC30A4 Homo sapiens O14863
Y2H Array
32296183
种属内
CLN6 Q9NWW5 GJA8 Homo sapiens P48165
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 GJA8 Homo sapiens P48165
Y2H Array
32296183
种属内
CLN6 Q9NWW5 EVI2B Homo sapiens P34910-2
Y2H Array
32296183
种属内
CLN6 Q9NWW5 EVI2B Homo sapiens P34910-2
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 CPLX4 Homo sapiens Q7Z7G2
Y2H Array
32296183
种属内
CLN6 Q9NWW5 CPLX4 Homo sapiens Q7Z7G2
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
种属内
CLN6 Q9NWW5 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 CYBC1 Homo sapiens Q9BQA9
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 CYBC1 Homo sapiens Q9BQA9
Y2H Array
32296183
种属内
CLN6 Q9NWW5 LIME1 Homo sapiens Q9H400
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 LIME1 Homo sapiens Q9H400
Y2H Array
32296183
种属内
CLN6 Q9NWW5 CLEC10A Homo sapiens Q8IUN9
Y2H Array
32296183
种属内
CLN6 Q9NWW5 CLEC10A Homo sapiens Q8IUN9
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 GORAB Homo sapiens Q5T7V8
Y2H Array
32296183
种属内
CLN6 Q9NWW5 GORAB Homo sapiens Q5T7V8
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 CREB3L1 Homo sapiens Q96BA8
Y2H Array
32296183
种属内
CLN6 Q9NWW5 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 STX1A Homo sapiens Q16623
Y2H Array
32296183
种属内
CLN6 Q9NWW5 STX1A Homo sapiens Q16623
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 TMEM139 Homo sapiens Q8IV31
Y2H Array
32296183
种属内
CLN6 Q9NWW5 TMEM139 Homo sapiens Q8IV31
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 CLDN7 Homo sapiens O95471
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 CLDN7 Homo sapiens O95471
Y2H Array
32296183
种属内
CLN6 Q9NWW5 CD79A Homo sapiens P11912
Y2H Array
32296183
种属内
CLN6 Q9NWW5 CD79A Homo sapiens P11912
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 KIR2DL3 Homo sapiens P43628
Y2H Prey Pooling
32296183
种属内
CLN6 Q9NWW5 KIR2DL3 Homo sapiens P43628
Y2H Array
32296183
种属内
CLN6 Q9NWW5 EBAG9 Homo sapiens O00559
Y2H Array
32296183
种属内
CLN6 Q9NWW5 EBAG9 Homo sapiens O00559
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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