CLN8 - CLN8 transmembrane ER and ERGIC protein Gene

Homo sapiens

Also known as EPMR; TLCD6; C8orf61

Gene ID: 2055 | Gene type: protein coding

About CLN8

Cytogenetic location: 8p23.3 Genomic coordinates (GRCh38): 8:1,753,059-1,786,570 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 185 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 5.7), spleen (RPKM 4.0) and 25 other tissues.

Summary

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and Phospholipids in the brain. [provided by RefSeq, Jul 2017]

CLN8 Products(1)

mRNA	Protein	Name
NM_018941.4	NP_061764.2	protein CLN8

CLN8 Protein Structure

TRAM_LAG1_CLN8

0
100
200
286 a.a.

Protein Preferred Names

Protein Names

protein CLN8

ceroid-lipofuscinosis, neuronal 8

Related Diseases

Diseases

Alias

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, 8

Neuronal Ceroid Lipofuscinosis 8	CLN8
Cln8 Disease	Epilepsy Mental Deterioration Finnish Type
Northern Epilepsy	Cln8 Disease, Epmr
Cln8 Disease, Northern Epilepsy Variant	Cln8 Disease, Late Infantile
Ceroid Lipofuscinosis Neuronal 8	Ncl, Northern Epilepsy Variant
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	Progressive Epilepsy - Intellectual Disability, Finnish Type
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Turkish Variant Late Infantile Ncl
Ceroid Lipofuscinosis, Neuronal 8	Lipofuscinosis, Ceroid, Neuronal, Type 8
Northern Epilepsy Syndrome

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

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

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, 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, 11

Neuronal Ceroid Lipofuscinosis 11	CLN11
Cln11 Disease	Grn-Related Neuronal Ceroid-Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 11

Epilepsy, Idiopathic Generalized 5

EIG5	Epilepsy, Idiopathic Generalized, Susceptibility To, 5
Idiopathic Generalized Epilepsy 5	Epilepsy, Idiopathic Generalized Locus On Chromosome 10
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 10

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

Combined Oxidative Phosphorylation Deficiency 32

COXPD32

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

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

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

Ceroid Lipofuscinosis, Neuronal, 9

Neuronal Ceroid Lipofuscinosis 9	CLN9
Cln 9	Cln9 Disease

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, 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

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

Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Naga Deficiency Type 2
Schindler Disease, Type Ii	Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
Schindler Disease Type 2	Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset	Naga Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset	KANZD
Naga Deficiency Type Ii	Schindler Disease Type Ii

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

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

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

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

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

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02825	CLN8 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CLN8	MGD	MGI:1349447
Bos taurus	CLN8	VGNC	VGNC:106692
Macaca mulatta	CLN8	VGNC	VGNC:99469
Rattus norvegicus	CLN8	RGD	RGD:1359518