MFSD8

Major facilitator superfamily domain containing 8 also called MFSD8 is a protein that in humans is encoded by the MFSD8 gene.^[5] MFSD8 is an atypical SLC,^[6][7] thus a predicted SLC transporter. It clusters phylogenetically to the Atypical MFS Transporter family 2 (AMTF2).^[7]

MFSD8
Identifiers
Aliases	MFSD8, CLN7, CCMD, major facilitator superfamily domain containing 8
External IDs	OMIM: 611124; MGI: 1919425; HomoloGene: 115814; GeneCards: MFSD8; OMA:MFSD8 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q28.2 Start 127,917,799 bp[1] End 127,966,034 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 B Start 40,818,103 bp[2] End 40,846,886 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon body of pancreas bone marrow cells epithelium of colon cerebellar hemisphere sural nerve pancreatic epithelial cell monocyte right hemisphere of cerebellum anterior pituitary Top expressed in white adipose tissue quadriceps femoris muscle muscle tissue skeletal muscle tissue liver muscle of thigh ganglionic eminence jejunum neural layer of retina ileum More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 256471 72175 Ensembl ENSG00000164073 ENSMUSG00000025759 UniProt Q8NHS3 Q8BH31 RefSeq (mRNA) NM_152778 NM_001363520 NM_001363521 NM_001371590 NM_001371591 NM_001371592 NM_001371593 NM_001371594 NM_001371595 NM_001371596 NM_028140 RefSeq (protein) NP_689991 NP_001350449 NP_001350450 NP_001358519 NP_001358520 NP_001358521 NP_001358522 NP_001358523 NP_001358524 NP_001358525 NP_082416 Location (UCSC) Chr 4: 127.92 – 127.97 Mb Chr 3: 40.82 – 40.85 Mb PubMed search [3] [4]
Wikidata
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Function

MFSD8 is a ubiquitous integral membrane protein which 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.^[8]

Clinical significance

Mutations in the MFSD8 gene have been of neuronal ceroid lipofuscinosis.^[9]