MFSD8 Chromosome 4
Major facilitator superfamily domain containing 8
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 |
|---|---|---|---|
| RS2148873794 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2148907184 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2148922004 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2148972564 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2148972962 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546042714 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546046108 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546046684 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546047302 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546048314 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546048657 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546083094 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546083130 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546083325 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546083492 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546083610 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546093861 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546127049 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546127084 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546127240 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546137643 | Health Risk | Pathogenic | Macular dystrophy with central cone involvement, Macular dystrophy with central cone involvement |
| RS2546138613 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546166179 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546166888 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2546167853 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2546240643 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS558274487 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS724159970 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Late-infantile neuronal ceroid lipofuscinosis |
| RS727502800 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7 |
| RS727502801 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS749315686 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Macular dystrophy with central cone involvement |
| RS796052749 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS796052752 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7 |
| RS886041806 | Health Risk | Pathogenic | — |
| RS904329013 | Health Risk | Pathogenic | — |
| RS1312200609 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS1407346059 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS140948465 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Inborn genetic diseases |
| RS1439582451 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS1553950197 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7 |
| RS1578794927 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7 |
| RS1736332381 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS2148943607 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS267607235 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis, Inborn genetic diseases |
| RS559155109 | Health Risk | Pathogenic/Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Retinal dystrophy, Retinitis pigmentosa |
| RS571950296 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Macular dystrophy with central cone involvement |
| RS587778809 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis, Macular dystrophy with central cone involvement |
| RS724159971 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Inborn genetic diseases |
| RS760049336 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7 |
| RS775699005 | Health Risk | Pathogenic/Likely pathogenic | Neuronal ceroid lipofuscinosis 7, Retinal dystrophy, Neuronal ceroid lipofuscinosis 7 |