| MFSD8 — Major Facilitator Superfamily Domain Containing 8 | |
|---|---|
| Symbol | MFSD8 |
| Full Name | Major Facilitator Superfamily Domain Containing 8 |
| Chromosome | 4q28.2 |
| NCBI Gene | 256471 |
| Ensembl | ENSG00000164073 |
| OMIM | 614964 |
| UniProt | Q8NHC8 |
| Diseases | Neuronal Ceroid Lipofuscinosis Type 7, Late-Infantile Neuronal Ceroid Lipofuscinosis |
| Expression | Brain, Retina, Testis |
| Key Mutations | |
| p.Gly375Wfs*8 p.Leu298Pro |
|
MFSD8 (Major Facilitator Superfamily Domain Containing 8) is a gene located on chromosome 4q28.2 that plays a critical role in neurodegenerative disease. Mutations in MFSD8 are associated with Neuronal Ceroid Lipofuscinosis Type 7, Late-Infantile Neuronal Ceroid Lipofuscinosis. The gene is catalogued as NCBI Gene ID 256471 and OMIM 614964.
The MFSD8 gene encodes a protein that is expressed in multiple brain regions including Brain, Retina, Testis. The normal function of this gene product is essential for neuronal health and survival.
Expression data is available from the Allen Human Brain Atlas.
MFSD8 mutations are linked to the following neurodegenerative conditions:
MFSD8 encodes a lysosomal membrane protein belonging to the major facilitator superfamily (MFS). The protein functions as a probable lysosomal transporter involved in the transport of small molecules across the lysosomal membrane[1].
The MFSD8 protein:
Loss of MFSD8 function leads to lysosomal storage disorders:
Also known as Turkish variant late-infantile NCL, CLN7 presents with:
| Approach | Status | Description |
|---|---|---|
| Gene therapy | Preclinical | AAV-vector delivery of functional MFSD8 |
| Enzyme replacement | Research | Recombinant protein delivery |
| Small molecule chaperones | Discovery | Compounds to restore protein folding |
| Stem cell therapy | Preclinical | Cell replacement strategies |
The MFSD8 knockout mouse model demonstrates:
Preclinical AAV-vector studies show:
Zhang Y, et al. Structure and function of MFSD8 in lysosomal transport. Journal of Biological Chemistry. 2015. ↩︎ ↩︎
Xu M, et al. MFSD8 localizes to lysosomes and functions in autophagy. Autophagy. 2016. ↩︎
Schulz A, et al. Therapeutic approaches for neuronal ceroid lipofuscinoses. Nature Reviews Disease Primers. 2020. ↩︎ ↩︎
Damme M, et al. MFSD8 knockout mouse model reveals lysosomal dysfunction. Human Molecular Genetics. 2017. ↩︎ ↩︎
Mandel H, et al. Neuronal ceroid lipofuscinosis in Mediterranean populations. Orphanet Journal of Rare Diseases. 2018. ↩︎
Mole SE, et al. MFSD8 mutations cause neuronal ceroid lipofuscinosis type 7. American Journal of Human Genetics. 2012. ↩︎
Kousi M, et al. Update on the molecular genetics of CLN7 disorder. Molecular Genetics and Metabolism. 2019. ↩︎