MFSD8 Chromosome 4

Major facilitator superfamily domain containing 8
154 variants 154 Health Risk

Upload your DNA to see your personal genotypes for variants in MFSD8.

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
RS2148841537 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2149009008 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2523394249 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546046014 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546047421 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546048023 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546048772 Health Risk Likely pathogenic —
RS2546084011 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546094359 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546094362 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546127671 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546165318 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS2546167400 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546241222 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS556661896 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS749704755 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis, Macular dystrophy with central cone involvement
RS751696703 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS757345902 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS757857101 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS761969307 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Thyroid cancer, nonmedullary
RS773886985 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS779648626 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS780499761 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS796052742 Health Risk Likely pathogenic Late-infantile neuronal ceroid lipofuscinosis, Late-infantile neuronal ceroid lipofuscinosis
RS118203976 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS118203977 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7
RS1209722075 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1271198944 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1300341137 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1314967038 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1460276679 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1560776422 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1578912362 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1736332603 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1737980148 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1738418070 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1739594685 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1740291234 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1744829646 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS200319160 Health Risk Pathogenic Late-infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases
RS2148837137 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148837382 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148839459 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148839909 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148839960 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148840216 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS2148840396 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148840426 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148840973 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148841110 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
« Prev 1 2 3 4 Next »
Sign Up to Analyze Your DNA Log In