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Gene

MFSD8

major facilitator superfamily domain containing 8

Summary

Cytogenetic location
4q28.2
Coordinates
Chromosome 4: 127,917,805–127,965,173 (GRCh38)
Exons
12 exons across 47.4 kb
Protein
518 amino acids
Inheritance
Autosomal recessive
Also known as
SLC74A1, MGC33302
Previous symbols
CLN7
MANE Select transcript
ENST00000641686.2NM_001371596.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Age-Related Macular Degeneration

    • A progressive degeneration of the macula in older adults, occurring in dry (atrophic) and wet (neovascular) forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      AREDS2 supplementation; anti-VEGF injections (ranibizumab, aflibercept) for wet AMD; pegcetacoplan (Syfovre) for geographic atrophy; avacincaptad (Izervay) for GA; smoking cessation; blood pressure management; UV protection; low-vision rehabilitation

  • Neuronal Ceroid Lipofuscinosis

    • Late Infantile Neuronal Ceroid LipofuscinosisAutosomal recessive

      A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

      • 5 GenCC submitters rate it definitive or strong
    • Autosomal recessive

      A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MFSD8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where MFSD8 sits. MFSD8 and 7 genes near it on chromosome 4, from 127,441,489 to 128,441,488.Chromosome 44q28.2p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2127.6 Mb127.8 Mb128 Mb128.2 Mb128.4 MbINTU: 127,623,271–127,726,737, forward strandINTUSLC25A31: 127,730,400–127,774,292, forward strandSLC25A31HSPA4L: 127,781,821–127,840,733, forward strandHSPA4LPLK4: 127,880,890–127,899,224, forward strandPLK4MFSD8: 127,917,805–127,965,173, reverse strandMFSD8ABHD18: 127,965,252–128,039,953, forward strandABHD18LARP1B: 128,060,638–128,222,931, forward strandLARP1BPGRMC2: 128,268,172–128,288,834, reverse strandPGRMC2Diagram of MFSD8: 12 exons on the reverse strand of chromosome 4Exon 12: 13 known disease-causing sitesExon 11: 16 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 9 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 12: 127,917,805–127,920,836, 3,032 basesExon 11: 127,921,524–127,921,771, 248 basesExon 10: 127,921,860–127,921,963, 104 basesExon 9: 127,930,683–127,930,817, 135 basesExon 8: 127,932,985–127,933,093, 109 basesExon 7: 127,938,783–127,938,838, 56 basesExon 6: 127,939,853–127,939,997, 145 basesExon 5: 127,942,045–127,942,158, 114 basesExon 4: 127,943,752–127,943,992, 241 basesExon 3: 127,949,804–127,949,847, 44 basesExon 2: 127,957,501–127,957,592, 92 basesExon 1: 127,965,072–127,965,173, 102 bases1210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.4 kb of the gene's 47.4 kb; 1,557 of those bases code for the protein.

How a genome test reads MFSD8

141

positions in MFSD8 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 47.4 kb of MFSD8, introns included, not only the 4.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MFSD8 gene: major facilitator superfamily domain containing 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/mfsd8

Vancouver

Dante Labs. MFSD8 gene: major facilitator superfamily domain containing 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mfsd8

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