MFSD8 Gene: Major Facilitator Superfamily Domain Containing 8
Genetic insights into MFSD8-related lysosomal storage disorders and neuronal ceroid lipofuscinosis
Gene Information Card
| Symbol | MFSD8 |
|---|---|
| Full Name | Major Facilitator Superfamily Domain Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.2 |
| NCBI Gene ID | 256471 ncbi.nlm.nih.gov/gene/256471 |
| Ensembl ID | ENSG00000164073 |
| UniProt ID | Q8NHS3 |
| OMIM ID | 611124 |
| HGNC ID | 28486 |
| Aliases | CLN7, MGC33302, FLJ22318 |
Description
The MFSD8 gene encodes a member of the major facilitator superfamily of transporter proteins. The protein is localized to lysosomal membranes and is involved in the transport of small solutes across membranes. Mutations in MFSD8 are associated with neuronal ceroid lipofuscinosis type 7 (CLN7), a lysosomal storage disorder characterized by progressive neurodegeneration. The gene is expressed in various tissues, with highest levels in the brain and retina.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuronal ceroid lipofuscinosis type 7 (CLN7) | Loss-of-function mutations in MFSD8 lead to defective lysosomal transport, causing accumulation of autofluorescent lipopigments (ceroid lipofuscin) in neurons and other cells, leading to neurodegeneration. | ClinVar, OMIM, NCBI Gene |
| Retinal dystrophy (isolated) | MFSD8 mutations can cause retinal degeneration without prominent neurological symptoms, likely due to impaired lysosomal function in retinal pigment epithelium. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Retina | 15.8 | High |
| Lung | 8.2 | Low |
| Liver | 6.5 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.5 | High expression |
| HeLa (cervical carcinoma) | 9.8 | Moderate |
| HepG2 (hepatocellular carcinoma) | 6.2 | Low |
| A549 (lung carcinoma) | 7.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.754C>T (p.Arg252Ter) | Nonsense | Rare (found in CLN7 patients) | Premature stop codon leading to truncated protein and loss of function |
| c.1444C>T (p.Arg482Ter) | Nonsense | Rare (found in CLN7 patients) | Loss of function due to protein truncation |
| c.881C>T (p.Thr294Met) | Missense | Rare (found in CLN7 patients) | Amino acid substitution affecting protein stability/function |
| c.1235A>G (p.Tyr412Cys) | Missense | Rare (found in CLN7 patients) | Altered protein function, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MFSD7 mutations are loss-of-function, leading to impaired lysosomal transport and CLN7 disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MFSD8.
Dominant Negative (DN)
No evidence of dominant-negative effects; MFSD8-associated diseases are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • transporter activity (GO:0005215) | • integral component of membrane (GO:0016021) |
| • lysosome (GO:0005764) | • lysosomal membrane (GO:0005765) |
| • transmembrane transport (GO:0055085) |
Pathways
• Lysosomal transport
• Solute transport across membranes
Protein Summary
The MFSD8 protein is a lysosomal membrane transporter belonging to the major facilitator superfamily. It is predicted to have 12 transmembrane domains and is involved in the transport of small molecules across lysosomal membranes. Defects in this protein lead to lysosomal dysfunction and accumulation of storage material, particularly in neurons, causing CLN7 disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFSD8 Knockout HEK293T Cell Line | EDJ-KQ166 | Human | 256471 | Details Get a Quote |
| MFSD8 Knockout HEK293 Cell Line | EDJ-KQ14252 | Human | 256471 | Details Get a Quote |
| MFSD8 Knockout A-549 Cell Line | EDJ-KQ44249 | Human | 256471 | Details Get a Quote |
| MFSD8 Knockout HCT 116 Cell Line | EDJ-KQ44250 | Human | 256471 | Details Get a Quote |
| MFSD8 Knockout HeLa Cell Line | EDJ-KQ44251 | Human | 256471 | Details Get a Quote |
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