MFSD8 Chromosome 4

Major facilitator superfamily domain containing 8
154 variants 154 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 74
Locus Type
gene with protein product
Location
4q28.2
Ensembl
ENSG00000164073
Associated Conditions (22)
Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
MFSD8-related disorder
Macular dystrophy with central cone involvement
Late-infantile neuronal ceroid lipofuscinosis
Optic atrophy
Retinal dystrophy
Retinal disorder
Cone-rod dystrophy
Abnormality of the nervous system
Familial cancer of breast
Cervical cancer
Thyroid cancer
nonmedullary
1
Microcephaly 5
primary
autosomal recessive
Severe early-childhood-onset retinal dystrophy
+2 more conditions
Key Variants
RS1008821019
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 7
Health Risk
RS1043984708
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
Health Risk
RS1057520312
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
Health Risk
RS1162750836
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
Health Risk
RS118203978
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
Health Risk
RS1212979817
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
Health Risk
RS1275962600
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
Health Risk
RS138072045
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, MFSD8-related disorder
Health Risk
RS145529594
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
Health Risk
RS147750747
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, MFSD8-related disorder
Health Risk
RS1477527807
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
Health Risk
RS150418024
Conflicting classifications of pathogenicity
Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
Health Risk
All Variants (154)
RSID Category Clinical Significance Conditions
RS1008821019 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 7
RS1043984708 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS1057520312 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1162750836 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS118203978 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS1212979817 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1275962600 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS138072045 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, MFSD8-related disorder
RS145529594 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS147750747 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, MFSD8-related disorder
RS1477527807 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS150418024 Health Risk Conflicting classifications of pathogenicity Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS1553950874 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS200591471 Health Risk Conflicting classifications of pathogenicity Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases
RS2148837121 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546153020 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546240502 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS28544073 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS370663969 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS528664888 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 7
RS532843679 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases
RS547726489 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Retinal dystrophy, Cone-rod dystrophy
RS556875684 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS565253666 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Abnormality of the nervous system, Neuronal ceroid lipofuscinosis 7
RS570989221 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS578102641 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS587781037 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS75039907 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Retinal dystrophy, Late-infantile neuronal ceroid lipofuscinosis
RS752035164 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS753930474 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS755011754 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS756204684 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS762559863 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS76506918 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS778330834 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS993001712 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1057518388 Health Risk Likely pathogenic Late-infantile neuronal ceroid lipofuscinosis, Late-infantile neuronal ceroid lipofuscinosis
RS1156864297 Health Risk Likely pathogenic Macular dystrophy with central cone involvement, Macular dystrophy with central cone involvement
RS118203975 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1422791271 Health Risk Likely pathogenic —
RS1449062348 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1553946656 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1553957829 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1560747815 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1578889355 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1578912759 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1578986310 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7
RS1736369601 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1736400607 Health Risk Likely pathogenic —
RS1743097125 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
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