1. Gene
  2. MFSD8 - major facilitator superfamily domain containing 8 Gene

MFSD8 - major facilitator superfamily domain containing 8 Gene

Homo sapiens

Also known as CCMD; CLN7

Gene ID: 256471 | Gene type: protein coding

About MFSD8

Cytogenetic location: 4q28.2 Genomic coordinates (GRCh38): 4:127,917,732-127,965,963 (from NCBI)

This gene has 62 transcripts (splice variants), 221 orthologues, 6 paralogues and is associated with 5 phenotypes. Ubiquitous expression in skin (RPKM 4.9), thyroid (RPKM 4.1) and 25 other tissues.

Summary

This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]

MFSD8 Products(12)

mRNA Protein Name
NM_001363520.3 NP_001350449.1 major facilitator superfamily domain-containing protein 8 isoform 2
NM_001363521.3 NP_001350450.1 major facilitator superfamily domain-containing protein 8 isoform 3
NM_001371590.2 NP_001358519.1 major facilitator superfamily domain-containing protein 8 isoform 4
NM_001371591.2 NP_001358520.1 major facilitator superfamily domain-containing protein 8 isoform 5
NM_001371592.2 NP_001358521.1 major facilitator superfamily domain-containing protein 8 isoform 6
NM_001371593.2 NP_001358522.1 major facilitator superfamily domain-containing protein 8 isoform 7
NM_001371594.2 NP_001358523.1 major facilitator superfamily domain-containing protein 8 isoform 8
NM_001371595.1 NP_001358524.1 major facilitator superfamily domain-containing protein 8 isoform 9
NM_001371596.2 NP_001358525.1 major facilitator superfamily domain-containing protein 8 isoform 1
NM_001410765.1 NP_001397694.1 major facilitator superfamily domain-containing protein 8 isoform 10
NM_001410766.1 NP_001397695.1 major facilitator superfamily domain-containing protein 8 isoform 11
NM_152778.4 NP_689991.1 major facilitator superfamily domain-containing protein 8 isoform 1

MFSD8 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (42 - 359)

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  • 518 a.a.
Protein Preferred Names Protein Names

major facilitator superfamily domain-containing protein 8

ceroid-lipofuscinosis, neuronal 7, late infantile

Related Diseases

Diseases Alias
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

Macular Dystrophy With Central Cone Involvement

CCMD

Dystrophy, Macular, With Central Cone Involvement

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, 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

Microcephaly 5, Primary, Autosomal Recessive

MCPH5

Primary Autosomal Recessive Microcephaly 5

Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern

Microcephaly, Primary Autosomal Recessive, 5

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

Severe Early-Childhood-Onset Retinal Dystrophy

Eosrd

Early-Onset Severe Retinal Dystrophy

Secord

Retinal Dystrophy, Early Onset Severe

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

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

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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, 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

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

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

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

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, 13

Neuronal Ceroid Lipofuscinosis 13

CLN13

Neuronal Ceroid Lipofuscinosis 13 Kufs Type

Cln13 Disease

Lipofuscinosis, Ceroid, Neuronal, Type 13

Microcephaly And Chorioretinopathy 2
Combined Oxidative Phosphorylation Deficiency 32

COXPD32

Mucopolysaccharidosis, Type Iiic

Mucopolysaccharidosis Type Iiic

MPS3C

Mps Iiic

Sanfilippo Syndrome C

Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency

Hgsnat Deficiency

Mpsiiic

Mucopolysaccharidosis Type 3c

Sanfilippo Syndrome Type C

Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency

Mucopoly-Saccharidosis Type 3c

Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency

Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency

Mps 3c

Mps Iii-C

Mucopolysaccharidosis 3c

Mucopolysaccharidosis Iii

Mps Iii C

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

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

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

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B

Acid Sphingomyelinase Deficiency, Visceral Type

Asmd, Visceral Type

Niemann Pick Disease Type B

Chronic Visceral Acid Sphingomyelinase Deficiency

Chronic Visceral Asmd

Npd-B

Niemann-Pick Disease B

NPDB

Niemann-Pick Disease Adult Non-Neuronopathic Form

Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

Niemann-Pick Disease Type E

Niemann-Pick Disease Type F

Niemann-Pick Disease Type I

Niemann-Pick Disease Visceral Form

Npb

Sphingomyelinase Deficiency

Sphingomyelin Lipidosis

Niemann-Picks Disease Type B

Niemann-Pick Disease, Type E

Niemann-Pick Diseases

Niemann-Pick Disease, Type A

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

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
Rattus norvegicus MFSD8 RGD RGD:1310132
Canis familiaris MFSD8 VGNC VGNC:43208
Mus musculus MFSD8 MGD MGI:1919425
Macaca mulatta MFSD8 VGNC VGNC:74604
Bos taurus MFSD8 VGNC VGNC:31443
Felis catus MFSD8 VGNC VGNC:63485