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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chloride channel activity	IDA IDA: Inferred from direct assay	34910516	GOA
enables fluoride channel activity	IDA IDA: Inferred from direct assay	34910516	GOA
enables iodide transmembrane transporter activity	IDA IDA: Inferred from direct assay	34910516	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endosome membrane	IDA IDA: Inferred from direct assay	34910516	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	34910516	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

MFSD8 Protein Structure

MFS_1

0
100
200
300
400
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08394	MFSD8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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